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 We analyzed 187 consanguineous ASD families for biallelic CNVs.

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

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

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

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

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

13 We report the case of a consanguineous couple who lost four pregnancies associat

14 In two consanguineous couples, we uncover distinct germline TBX

15 hearing loss in sporadic individuals born to consanguineous couples.

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

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

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

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

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

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

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

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

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

25 hanistic cause of disease in two independent consanguineous families affected by overlapping craniofa

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

41 rates that high-throughput DNA sequencing in consanguineous families is a superior strategy for eluci

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

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

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

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

48 Two presumably unrelated consanguineous families presented with an apparently nov

49 We mapped an additional 40 consanguineous families segregating nonsyndromic hearing

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

51 he IL2RB gene of eight individuals from four consanguineous families that cause disease by distinct m

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

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

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

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

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

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

58 ere report four patients from two unrelated, consanguineous families with a childhood/adolescence ons

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

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

61 Four consanguineous families with childhood-onset humoral imm

62 We studied two unrelated consanguineous families with daughters exhibiting primar

63 We identified ten persons in six consanguineous families with distal arthrogryposis (DA)

64 tified homozygous mutations in KLHL24 in two consanguineous families with HCM.

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

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

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

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

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

72 We report two consanguineous families with probands that exhibit intel

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

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

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

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

77 Here we report three consanguineous families, each containing multiple indivi

78 Here we identify two consanguineous families, each with two affected family m

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 In two Arab consanguineous families, we mapped a ciliopathy phenotyp

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

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

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

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

89 resented by 11 patients from six independent consanguineous families.

90 chromosome 9 region containing PSAT1 in four consanguineous families.

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

92 formed autozygosity mapping studies in three consanguineous families.

93 zed individuals with CAKUT from 33 different consanguineous families.

94 the diagnostic yield of exome sequencing in consanguineous families.

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

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

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

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

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

100 165_Pro169delinsAsp]) in two siblings from a consanguineous family and compound-heterozygous mutation

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

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

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

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

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

106 The four homozygously affected sons of a consanguineous family display severe dentinogenesis impe

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

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

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

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

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

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

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

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

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

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

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

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

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

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

121 A consanguineous family was ascertained in which four chil

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

123 A consanguineous family with 3 affected children was inves

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

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

126 We have identified a consanguineous family with autosomal recessive inheritan

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

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

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

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

131 In a consanguineous family with congenital ptosis and elevati

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

149 Herein we present a consanguineous family with three children affected by fo

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

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

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

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

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

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

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

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

158 tems disease in three affected siblings of a consanguineous family.

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

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

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

162 ients with cardiac laterality defects from a consanguineous family.

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

164 al recessive optic neuropathy from a Chinese consanguineous family.

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

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

167 protein 2 (GCP2), in two individuals from a consanguineous family; both individuals presented with m

168 The consanguineous, heterozygous p.T567M parents exhibited t

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

170 tly available, unless recruitment focuses on consanguineous individuals.

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

172 4, RPE65, MERTK, USH2A, SPATA7, TULP1) in 10 consanguineous Iranian families.

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

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

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

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

177 We studied a multiplex consanguineous Jordanian family by homozygosity mapping

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

179 We evaluated a consanguineous kindred and a genetically unrelated nonco

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

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

182 ing, was diagnosed in six individuals from a consanguineous kindred.

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

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

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

186 Given the ongoing decline in consanguineous marriage, inherited hearing loss will lik

187 amily from Northeastern Brazil, which has 28 consanguineous marriages and 59 genotyped family members

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

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

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

191 dence of which is significantly increased in consanguineous marriages.

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

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

194 ns for low diversity, such as high levels of consanguineous mating, or a very recent bottleneck.

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

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

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

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

199 We subsequently identified a third Arab consanguineous multiplex family in which the phenotype o

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

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

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

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

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

205 ly screened 225 severely obese children from consanguineous Pakistani families through a combination

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

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

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

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

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

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

212 Three siblings in a consanguineous Pakistani family presented with profound

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

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

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

216 In a consanguineous Pakistani family with three affected indi

217 In a consanguineous Pakistani family with two affected indivi

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

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

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

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

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

223 We studied a consanguineous Palestinian Arab family segregating an au

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

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

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

227 hom were single affected individuals born to consanguineous parents and some of whom were siblings of

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

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

230 Her consanguineous parents are each heterozygous for this va

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

232 A second Iranian family with consanguineous parents hosting an identical heterozygous

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

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

235 ating ankylosing spondylitis who was born to consanguineous parents was found to have an apparent sev

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

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

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

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

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

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

242 About two-thirds of patients were born to consanguineous parents, and 82% carried homozygous varia

243 p.Gly138Ala, and one last patient, born from consanguineous parents, carrying a third, homozygous var

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

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

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

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

248 rt of singleton affected individuals born to consanguineous parents.

249 tations from their asymptomatic heterozygous consanguineous parents.

250 r sequencing in two siblings born to healthy consanguineous parents.

251 have additional autoimmunity or are born to consanguineous parents.

252 HistoryA 13-year-old girl was born to consanguineous parents.

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

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

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

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

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

258 We describe a large consanguineous pedigree from a remote area of Northern P

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 cause of childhood-onset cardiomyopathy in a consanguineous population, a categorized approach was ad

268 ole exome and whole genome sequencing in 404 consanguineous predominantly Iranian families with two o

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

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

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

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

273 f cognitive decline among offspring of known consanguineous relationships.

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

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

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

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

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

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

286 We characterized a consanguineous Turkish family suffering from von Willebr

287 tozygosity mapping and exome sequencing in a consanguineous Turkish family with Joubert syndrome high

288 gregated with infertility in five men from a consanguineous Turkish family.

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

293 Consanguineous unions are more likely to result in offsp

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

295 n populations with known high frequencies of consanguineous unions.

296 Analysis of a consanguineous UTS family identified a biallelic TUBB2B

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

298 61% of the families were consanguineous with AR inheritance pattern.

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