ライフサイエンスコーパス: consanguineous

1 population residing in this region is highly consanguineous and a lack of understanding of the disord

2 ions (H283R and R3772W) were identified in a consanguineous and a nonconsanguineous pedigree, respect

3 Down syndrome is more common in the highly consanguineous and multiparous Middle Eastern population

4 and whole exome sequencing were performed in consanguineous and nonconsanguineous MCPH families to id

5 of additional markers in the PR family and a consanguineous Arab family further limited the disease l

6 controls, suggesting a contribution in 5% of consanguineous ASD cases.

7 Genomes of individuals with consanguineous background are enriched for homozygous va

8 we performed homozygosity mapping of small, consanguineous BBS pedigrees, using moderately dense SNP

9 sity mapping, using genomic DNA from a large consanguineous Bedouin kindred that included 10 patients

10 eritance that was first described in a large consanguineous Bedouin kindred.

11 ive cerebro-renal syndrome was identified in consanguineous Bedouin kindred: neurological deteriorati

12 We studied a large, consanguineous Brazilian family that presented with wool

13 ity mapping and exome sequencing in a large, consanguineous British family of Pakistani origin reveal

14 th mild to moderate corneal opacity and in a consanguineous Cambodian family with developmental glauc

15 Here we report a patient of consanguineous descent presenting at 13 months of age wi

16 etes, but were identified less frequently in consanguineous families (12% in consanguineous families

17 rmed whole genome homozygosity mapping in 52 consanguineous families (of the initial 220), 2 of which

18 two homozygous truncating mutations in three consanguineous families (one Arab and two Hutterite) aff

19 cing of index patients were performed in 152 consanguineous families (the parents descended from a sa

20 We performed genetic linkage analysis in consanguineous families affected by hypogammaglobulinemi

21 Here, we present three consanguineous families affected by lethal arthrogryposi

22 mapping and whole-exome sequencing in three consanguineous families affected by NLS.

23 apping and next-generation sequencing in two consanguineous families affected by nonsyndromic autosom

24 ght affected individuals who were from three consanguineous families and presented with severe intell

25 al recessive Alport syndrome is suspected in consanguineous families and when female patients develop

26 We also demonstrate that small, consanguineous families are useful in identifying intrag

27 The two cases from unrelated consanguineous families both show neurologic abnormaliti

28 e on eight unrelated individuals born to non-consanguineous families clinically diagnosed with DBS or

29 in this gene, p.E49V and p.P18RfsX69, in two consanguineous families diagnosed with multiple ocular d

30 nction mutations in FEZF1 in two independent consanguineous families each with two affected siblings.

31 Of the 152 consanguineous families enrolled, 1 child (in 45 familie

32 mozygosity mapping with SNP arrays in small, consanguineous families for the identification of rare a

33 present five affected individuals (from two consanguineous families from Egypt and Pakistan and one

34 In three consanguineous families from northern Pakistan, we mappe

35 at null mutations in LTBP2 cause PCG in four consanguineous families from Pakistan and in patients of

36 e report ten individuals of four independent consanguineous families from Turkey, India, Libya, and P

37 rodevelopmental disorders, we identified six consanguineous families harboring homozygous inactivatin

38 Whole-genome mapping of two consanguineous families identified SLC30A10 as the affec

39 In this study, we report two consanguineous families in which a similar pattern of co

40 Subsequently, we ascertained five additional consanguineous families in which deafness segregated wit

41 A from affected individuals from three large consanguineous families in which markers linked to DFNB8

42 splice-site and a nonsense mutation, in two consanguineous families of Bedouin and Turkish origin.

43 In addition, a cohort of 12 consanguineous families of children with infantile spasm

44 diagnosed in multiple individuals from three consanguineous families of European descent.

45 y conserved zinc-finger gene, ZCD2, in three consanguineous families of Jordanian descent with Wolfra

46 In this study, we identified 11 consanguineous families of Pakistani origin with ARWH, a

47 We studied four unrelated consanguineous families of Tunisian decent diagnosed wit

48 e intellectual disability from two unrelated consanguineous families of Turkish and Kurdish ancestry,

49 Two presumably unrelated consanguineous families presented with an apparently nov

50 We mapped an additional 40 consanguineous families segregating nonsyndromic hearing

51 ear expressed gene), in affected members of consanguineous families segregating severe-to-profound p

52 Three subjects from two consanguineous families shared the identical rare homozy

53 Here, we describe three consanguineous families that display CORS.

54 ty mapping was undertaken in 8 patients from consanguineous families using 250,000 single nucleotide

55 requently in consanguineous families (12% in consanguineous families vs 46% in non-consanguineous fam

56 From several international clinics, 11 consanguineous families were identified with PYCR2 mutat

57 Here we report eight patients from five non-consanguineous families where next generation sequencing

58 en affected individuals from three unrelated consanguineous families who presented with recessively i

59 n mutation in the VPS45 gene in infants from consanguineous families who suffered from life-threateni

60 Homozygosity mapping in 16 consanguineous families with 25 affected individuals dem

61 ched Chain Ketoacid Dehydrogenase Kinase) in consanguineous families with autism, epilepsy, and intel

62 From a cohort of more than 2,000 consanguineous families with childhood neurological dise

63 Four consanguineous families with childhood-onset humoral imm

64 We studied two unrelated consanguineous families with daughters exhibiting primar

65 By analyzing additional consanguineous families with homozygosity at this locus,

66 sity mapping and whole-exome sequencing in 2 consanguineous families with idiopathic pediatric cardio

67 missense mutation in the AHI1 gene in three consanguineous families with JS, some with cortical poly

68 ied 7 with novel mutations, predominantly in consanguineous families with more than 1 affected member

69 In five consanguineous families with mutations, each pair of sib

70 ncing as a first-line diagnostic approach in consanguineous families with neurodevelopmental disorder

71 applied whole exome sequencing to 128 mostly consanguineous families with neurogenetic disorders that

72 rt on three MMIHS-affected subjects from two consanguineous families with no variants in the known MM

73 e-genome SNP-based linkage analysis in seven consanguineous families with PCD and central-microtubula

74 tallopeptidase domain 9 (ADAM9) gene in four consanguineous families with recessively inherited early

75 ns in DJ-1 (PARK7) have been reported in two consanguineous families with young-onset Parkinson's dis

76 We performed autozygosity mapping in five consanguineous families without RAB3GAP1/2 mutations and

77 ly-onset obesity, including 90 probands from consanguineous families, and investigated the extent to

78 C-beta 1 locus was excluded in the 12 other consanguineous families, consistent with genetic heterog

79 In the consanguineous families, homozygous variants c.928C>T (p

80 Because CSBS occurs in many consanguineous families, it is considered to be an autos

81 In a subset of nine extended consanguineous families, we found homozygous missense mu

82 In two unrelated consanguineous families, we identified three patients wi

83 By using homozygosity mapping in consanguineous families, we identify loss-of-function mu

84 Using genome-wide linkage analysis in consanguineous families, we mapped the disease locus to

85 vel homozygous TERT mutations in 2 unrelated consanguineous families, where the index cases presented

86 zed individuals with CAKUT from 33 different consanguineous families.

87 the diagnostic yield of exome sequencing in consanguineous families.

88 chromosome 9 region containing PSAT1 in four consanguineous families.

89 tions in seven DBQD type 2 subjects from six consanguineous families.

90 ies, exome sequencing was performed in three consanguineous families.

91 formed autozygosity mapping studies in three consanguineous families.

92 ed pathogenic mutations for five MKS3-linked consanguineous families.

93 entifying all 19 mutations in a cohort of 23 consanguineous families.

94 ng homozygous region on chromosome 20 in the consanguineous families.

95 in PYCR2 in the affected individuals of two consanguineous families.

96 12% in consanguineous families vs 46% in non-consanguineous families; p<0.0001).

97 In addition, a large consanguineous family (57004) showed linkage to the BBS7

98 ng, we reanalyzed the exome file of a second consanguineous family affected by a similar phenotype an

99 gene sequencing on 13 patients from a large consanguineous family affected by early-onset IBD, progr

100 observational case series of 13 members of a consanguineous family and 113 unrelated control individu

101 165_Pro169delinsAsp]) in two siblings from a consanguineous family and compound-heterozygous mutation

102 ping and whole exome sequencing in a Turkish consanguineous family and identified DGKE gene variants

103 dertook a genomewide linkage scan of a large consanguineous family and mapped a locus to 2q36-37.

104 Through the analysis of a consanguineous family and screening of nine additional p

105 given a diagnosis of CVID, who was born to a consanguineous family and thus would be expected to show

106 frameshift (p.Val477Glufs( *)25) in a large consanguineous family and two compound heterozygous muta

107 We ascertained a consanguineous family containing a male infant who prese

108 We performed a genomewide scan in a consanguineous family from Guam and found evidence of li

109 families from Egypt and Pakistan and one non-consanguineous family from Japan) who show intellectual

110 three families from The Netherlands, and one consanguineous family from Lebanon.

111 was mapped to chromosome 7p14.1-q11.22 in a consanguineous family from Pakistan.

112 tight-junction protein gene JAM3 in a large consanguineous family from the United Arab Emirates.

113 fected individuals from five other unrelated consanguineous family groups from different geographical

114 Homozygosity mapping in the consanguineous family has identified a candidate region

115 ome sequencing (WGS) was analyzed in a large consanguineous family in which members displayed autosom

116 Clinical GCD outpatients and consanguineous family members were enrolled in this stud

117 Here, we report an extended consanguineous family of Palestinian origin, in which 4

118 We evaluated 3 siblings from a consanguineous family presenting with EBV-associated B-c

119 apping and whole-exome sequencing (WES) in a consanguineous family revealed a homozygous missense mut

120 ort a genomewide linkage analysis of a large consanguineous family segregating autosomal recessively

121 We have used autozygosity mapping of a large consanguineous family segregating CAT to map the causati

122 Genomic DNA from an affected member of a consanguineous family segregating recessive, nonsyndromi

123 this study, we investigated a patient from a consanguineous family suffering from recurrent infection

124 an inactivating mutation in KISS1 in a large consanguineous family that results in failure of puberta

125 tly been described as the disease locus in a consanguineous family that suffers from cerebellar ataxi

126 s and whole-genome sequencing of a multiplex consanguineous family to identify in endothelin-converti

127 A consanguineous family was ascertained in which four chil

128 d exome sequencing, we recruited a multiplex consanguineous family who is affected by severe microcep

129 A consanguineous family with 3 affected children was inves

130 We investigated a large consanguineous family with 3 children who presented with

131 the clinical and hematological features of a consanguineous family with a severe autosomal recessive

132 We have identified a consanguineous family with autosomal recessive inheritan

133 o identify the underlying genetic cause in a consanguineous family with chronic inflammatory bowel di

134 acterized iPSCs from members of a discordant consanguineous family with chronic SMA.

135 encodes Ala>Thr) in RAD21 in patients from a consanguineous family with CIPO.

136 s including telomerase is mutated in a large consanguineous family with classical DC.

137 By whole-exome sequencing (WES) in a consanguineous family with congenital non-syndromic deaf

138 sequencing with linkage analysis to study a consanguineous family with early-onset antibody-negative

139 Here, we have reported 5 members of a consanguineous family with generalized, isolated anhidro

140 d a null mutation in KIAA0556 in a multiplex consanguineous family with hallmark features of mild Jou

141 Recently, whole-exome sequencing in a large consanguineous family with inherited premature ovarian f

142 ing whole-exome sequence analysis of a large consanguineous family with inherited premature ovarian f

143 Recently, homozygosity mapping with a consanguineous family with isolated retinitis pigmentosa

144 A consanguineous family with members who lacked pubertal d

145 ed a candidate gene, C20orf54, by studying a consanguineous family with multiple affected individuals

146 us missense mutation in the RAD51C gene in a consanguineous family with multiple severe congenital ab

147 We described a large consanguineous family with neuropathy and optic atrophy

148 C>T, R77W) within the CHST8 gene, in a large consanguineous family with non-inflammatory PSS type A.

149 rein, we applied whole-exome sequencing to a consanguineous family with one subject affected with RCD

150 l truncating mutation in DGKE (p.K101X) in a consanguineous family with patients affected by thrombot

151 hole-exome sequencing of two children from a consanguineous family with pyridoxine-dependent epilepsy

152 his issue of Blood, Manchev et al describe a consanguineous family with severe macrothrombocytopenia

153 of the kidneys and urinary tract in a highly consanguineous family with six affected children.

154 performed whole exome sequencing (WES) in a consanguineous family with TD and subsequently sequenced

155 Hence, we report a multiplex consanguineous family with the PEHO phenotype where affe

156 g, we investigated the molecular defect in a consanguineous family with three children clinically dia

157 c deletion of AMBN exon 6 in a second cousin consanguineous family with three of the six children hav

158 to investigate the underlying cause in a non-consanguineous family with two children affected by lymp

159 st studied two siblings with GACI from a non-consanguineous family without mutations in the ENPP1 gen

160 In a single highly consanguineous family, formerly diagnosed as oculo-oto-f

161 In a second, consanguineous family, two siblings had moderate develop

162 In an extended consanguineous family, we identified a novel neuropsychi

163 Using exome sequencing in a consanguineous family, we identified the homozygous muta

164 stic paraplegia and short stature, born to a consanguineous family.

165 , were found in three affected siblings in a consanguineous family.

166 short stature ("FILS syndrome") in a large, consanguineous family.

167 ients with cardiac laterality defects from a consanguineous family.

168 non-syndromic mental retardation (NSMR) in a consanguineous family.

169 mentosa (RP) phenotype observed in a Turkish consanguineous family.

170 shed enzymatic activity in 3 siblings from a consanguineous family.

171 The consanguineous, heterozygous p.T567M parents exhibited t

172 Driven principally by consanguineous homozygosity of GLRB mutations, the study

173 used routine semen analysis to identify two consanguineous Iranian families segregating autosomal-re

174 ity mapping and bioinformatics approach in a consanguineous Iranian-Jewish pedigree led to the identi

175 blings with inherited skin fragility born to consanguineous Iraqi parents.

176 crocephaly through homozygosity mapping of a consanguineous Israeli Arab family.

177 notyping for homozygosity mapping in a small consanguineous Israeli Bedouin family with autosomal rec

178 rminus of pro-EMAP II has been reported in a consanguineous Israeli Bedouin kindred suffering from Pe

179 We studied a multiplex consanguineous Jordanian family by homozygosity mapping

180 sity mapping and whole-exome sequencing in a consanguineous kindred affected by AR isolated dystonia,

181 We evaluated a consanguineous kindred and a genetically unrelated nonco

182 a rare inherited Mg(2+) wasting disorder in consanguineous kindred shows that EGF acts as an autocri

183 Affected subjects in the consanguineous kindred were homozygous for disease-speci

184 and atrial septal defects in 3 members of a consanguineous kindred.

185 ions in FBXL4 segregating in three unrelated consanguineous kindreds in which affected children prese

186 oyed whole-exome sequencing in two unrelated consanguineous kindreds with central nervous system (CNS

187 held true in populations that have preferred consanguineous marriage for many generations.

188 opulations because of the common practice of consanguineous marriage in the Middle East, which result

189 In addition, two siblings from a consanguineous marriage were found to be homozygous for

190 pathological features of two siblings from a consanguineous marriage who presented with respiratory h

191 Two siblings, products of a consanguineous marriage, were markedly deficient in both

192 henotype of these patients, prominently from consanguineous marriages in the Middle East, who display

193 countries that combine a high proportion of consanguineous marriages, a high incidence of TB, and an

194 n people with a high prevalence of customary consanguineous marriages, we have developed a gene-targe

195 dence of which is significantly increased in consanguineous marriages.

196 ecause of shared ancestry and a high rate of consanguineous marriages.

197 Africa is densely populated, and consanguineous mating is high in some areas of North and

198 ygous exons 4-6 deletion was identified in a consanguineous Middle Eastern Arab family.

199 Recently, we used homozygosity mapping in consanguineous Middle Eastern kindreds to localize the A

200 genes has involved analysis of large, often consanguineous multiplex families or small cohorts of un

201 another cerebral glucose transporter, in two consanguineous multiplex families with moderate to sever

202 llowed by targeted resequencing in a Turkish consanguineous multiplex family and identified a canonic

203 Patients are mostly from North African, consanguineous, multiplex families, which strongly sugge

204 We investigated a large, consanguineous, multiplex kindred in which biological fe

205 In view of the consanguineous nature of the affected families and the l

206 In a total of 232 members of a large consanguineous Omani Arab pedigree (age: 16-80years), th

207 In an unrelated consanguineous Omani family, two children with elevated

208 ime, a mutation in CRYBB3 is reported in two consanguineous Pakistani families with autosomal recessi

209 ygous mutations in peroxidasin (PXDN) in two consanguineous Pakistani families with congenital catara

210 We identified five consanguineous Pakistani families with either HJMD or EE

211 th congenital profound hearing impairment in consanguineous Pakistani families with maximum LOD score

212 Here, we studied five consanguineous Pakistani families with recessive inherit

213 zed the chromosome 12q23.3 genomic region in consanguineous Pakistani families, some members of which

214 To identify the genetic cause of arCC in consanguineous Pakistani families, we performed genome-w

215 somal region 16q21-q23.2 in three unrelated, consanguineous Pakistani families.

216 kel syndrome to chromosome 3q22.1-q24 in two consanguineous Pakistani families.

217 Three siblings in a consanguineous Pakistani family presented with profound

218 Autosomal-recessive RP (arRP) in a consanguineous Pakistani family previously linked to chr

219 We report two siblings from a consanguineous Pakistani family who presented with cereb

220 We sought to unravel the genetic cause in a consanguineous Pakistani family with a complex neurologi

221 By using homozygosity mapping in a consanguineous Pakistani family, we detected linkage of

222 t was associated with stuttering in a large, consanguineous Pakistani family.

223 d autosomal-recessive hypomaturation AI in a consanguineous Pakistani family.

224 l nuclear cataracts on chromosome 19q13 in a consanguineous Pakistani family.

225 genesis in a genome-wide linkage search of a consanguineous Pakistani family.

226 the results of exome sequencing in 121 large consanguineous Pakistani ID families.

227 y to be disease causing in two siblings of a consanguineous Pakistani kindred affected by LCA.

228 We studied a consanguineous Palestinian Arab family segregating an au

229 ase: homozygous c.1565C>A (p.Thr522Asn) in a consanguineous Palestinian family and compound heterozyg

230 le for nonsyndromic hearing loss DFNB82 in a consanguineous Palestinian family.

231 eports a genome-wide search for linkage in a consanguineous Palestinian kindred with SRNS and deafnes

232 We studied two consanguineous Palestinian pedigrees with an autosomal r

233 d an exome sequencing study in a family with consanguineous parents and 10 children, five of whom wer

234 usly described a male infant who was born to consanguineous parents and who presented with severe con

235 Six of 17 (35%) patients born to consanguineous parents and with additional early-onset a

236 Her consanguineous parents are each heterozygous for this va

237 ho have benign fleck retina and were born to consanguineous parents are the basis of this report.

238 However, our only case with consanguineous parents had an age of onset of 54 years.

239 ion and were unrelated, but each was born to consanguineous parents of Turkish (2 patients), Iranian,

240 ntful pregnancy and birth, a male newborn of consanguineous parents of Turkish origin presented with

241 We describe a patient born to consanguineous parents who presented with a severe form

242 erizing a novel form of SCID in an infant of consanguineous parents who presented with life-threateni

243 We report siblings of consanguineous parents with an infantile-onset neurodege

244 In two siblings of consanguineous parents with intermittent nephrotic-range

245 domain 7 (TTC7A) gene in an infant from non-consanguineous parents with severe exfoliative apoptotic

246 ts included 2 severely affected cousins from consanguineous parents, 10 of their reportedly unaffecte

247 A female offspring of consanguineous parents, showed features of Wiskott-Aldri

248 This patient, born from consanguineous parents, showed no EGR2 immunoreactivity

249 asia (CCH) lacked syndromic features and had consanguineous parents, suggesting recessive causes.

250 terial and viral infections, born to healthy consanguineous parents, we used homozygosity mapping and

251 have additional autoimmunity or are born to consanguineous parents.

252 tations from their asymptomatic heterozygous consanguineous parents.

253 di, Syrian, or Yemeni ancestry, and all have consanguineous parents.

254 terial and viral infections, in an infant of consanguineous parents.

255 Using whole-exome sequencing in a remotely consanguineous patient from a family with two affected s

256 We identified a single consanguineous patient with an MKS-like ciliopathy that

257 the same homozygous mutation in an unrelated consanguineous patient with diabetes and bone marrow apl

258 t contribute to risk of RA in a 4-generation consanguineous pedigree (Middle Eastern ancestry) and al

259 We studied a large, consanguineous pedigree of Arab origin with seven member

260 n two siblings with neonatal diabetes from a consanguineous pedigree revealed a large shared homozygo

261 In a consanguineous pedigree with 2 individuals with MPSI, we

262 tric multipoint linkage analysis on a highly consanguineous pedigree with EAST syndrome, containing 2

263 We characterized a consanguineous pedigree with MPSI and obtained DNA from

264 essive early onset retinal degeneration in a consanguineous pedigree.

265 e combined WES with homozygosity analysis of consanguineous pedigrees, which are informative even whe

266 nd X-linked haplotypes from both outbred and consanguineous pedigrees.

267 ct the purging of deleterious alleles within consanguineous populations.

268 ur children in three unrelated families (one consanguineous) presented with lethargy, hyperlactatemia

269 e affected individuals and 26 members of the consanguineous Puerto Rican (PR) family originally descr

270 unodeficiency in 4 patients from 2 different consanguineous Qatari families with similar clinical and

271 exome sequencing of two brothers from a non-consanguineous relationship who presented before the age

272 f cognitive decline among offspring of known consanguineous relationships.

273 A genome-wide scan of a consanguineous RP pedigree mapped the trait to a 5.6 Mb

274 Using DNA from three affected siblings in a consanguineous Saudi Arabian family we performed genome-

275 mapping and direct sequencing in a multiplex consanguineous Saudi Arabian family with a pallido-pyram

276 fully determined yet, we have identified two consanguineous Saudi families segregating JATD who share

277 In a consanguineous Saudi family segregating Usher syndrome t

278 In a consanguineous Saudi family with multiple stillbirths pr

279 ve disorder in four affected siblings from a consanguineous Saudi family, comprising progressive spon

280 Homozygosity by descent mapping in a consanguineous SRP family identified a genomic region th

281 l genome linkage analysis was performed in a consanguineous SSNS kindred to identify a gene locus for

282 lied to determine C4 CNVs from samples of 50 consanguineous subjects who were mostly homozygous in HL

283 ge analysis and whole-genome sequencing of a consanguineous trio to discover that mutations in inosit

284 DNA samples were collected from 19 consanguineous Tunisian families with BBS.

285 me sequencing of affected individuals from a consanguineous Tunisian family and a large Israeli famil

286 We focused on consanguineous Turkish families with a single affected m

287 We report on three individuals from two consanguineous Turkish families with findings characteri

288 We characterized a consanguineous Turkish family suffering from von Willebr

289 loss locus (DFNB91) to chromosome 6p25 in a consanguineous Turkish family.

290 In a six-generation consanguineous Turkish kindred with both essential tremo

291 In a large consanguineous Turkish kindred with recessive nonsyndrom

292 Individuals born of consanguineous union have segments of their genomes that

293 We describe three siblings from a consanguineous union with a previously unreported early-

294 Consanguineous unions are more likely to result in offsp

295 unities at increased risk, and to couples in consanguineous unions, to assist in reproductive decisio

296 n populations with known high frequencies of consanguineous unions.

297 Analysis of a consanguineous UTS family identified a biallelic TUBB2B

298 Seven patients from 4 families (2 consanguineous) were identified with a similar MRI patte

299 e, we report on four families, three of them consanguineous, with an identical phenotype, characteriz

300 Using WES in consanguineous WWS-affected families, we found multiple