Multigenic truncation of the semaphorin-plexin pathway by a germline chromothriptic rearrangement associated with Moebius syndrome [0.03%]
与莫比乌斯综合征相关的生殖系染色体三体型重排截短semaphorin-plexin途径
Lusine Nazaryan-Petersen,Inês R Oliveira,Mana M Mehrjouy et al.
Lusine Nazaryan-Petersen et al.
Moebius syndrome (MBS) is a congenital disorder caused by paralysis of the facial and abducens nerves. Although a number of candidate genes have been suspected, so far only mutations in PLXND1 and REV3L are confirmed to cause MBS. Here, we ...
Case Reports
Human mutation. 2019 Aug;40(8):1057-1062. DOI:10.1002/humu.23775 2019
Three new cases of ataxia-telangiectasia-like disorder: No impairment of the ATM pathway, but S-phase checkpoint defect [0.03%]
三个新的亚탈기ект에타症病例：无ATM途径损伤，但S期检查点缺陷
Alice Fiévet,Dorine Bellanger,Stéphanie Valence et al.
Alice Fiévet et al.
Ataxia-telangiectasia-like disorder (ATLD) is a rare genomic instability syndrome caused by biallelic variants of MRE11 (meiotic recombination 11) characterized by progressive cerebellar ataxia and typical karyotype abnormalities. These sym...
Case Reports
Human mutation. 2019 Oct;40(10):1690-1699. DOI:10.1002/humu.23773 2019
Modified U1 snRNA and antisense oligonucleotides rescue splice mutations in SLC26A4 that cause hereditary hearing loss [0.03%]
U1-snRNA变体和反义寡核苷酸可修复SLC26A4基因的剪切突变以治疗遗传性耳聋
Byeonghyeon Lee,Ye-Ri Kim,Sang-Joo Kim et al.
Byeonghyeon Lee et al.
One of most important factors for messenger RNA (mRNA) transcription is the spliceosomal component U1 small nuclear RNA (snRNA), which recognizes 5' splicing donor sites at specific regions in pre-mRNA. Mutations in these sites disrupt U1 s...
eDiVA-Classification and prioritization of pathogenic variants for clinical diagnostics [0.03%]
基于临床诊断的致病变异分类和优先级划分系统 eDiVA
Mattia Bosio,Oliver Drechsel,Rubayte Rahman et al.
Mattia Bosio et al.
Mendelian diseases have shown to be an and efficient model for connecting genotypes to phenotypes and for elucidating the function of genes. Whole-exome sequencing (WES) accelerated the study of rare Mendelian diseases in families, allowing...
Yuri A Zarate,Katherine A Bosanko,Aisling R Caffrey et al.
Yuri A Zarate et al.
SATB2-associated syndrome (SAS) is an autosomal dominant neurodevelopmental disorder caused by alterations in the SATB2 gene. Here we present a review of published pathogenic variants in the SATB2 gene to date and report 38 novel alteration...
Atsuko Imai-Okazaki,Yi Li,Sukanya Horpaopan et al.
Atsuko Imai-Okazaki et al.
Homozygosity mapping is a well-known technique to identify runs of homozygous variants that are likely to harbor genes responsible for autosomal recessive disease, but a comparable method for autosomal dominant traits has been lacking. We d...
Concern regarding classification of germline TP53 variants as likely pathogenic [0.03%]
关于将生殖细胞TP53变异体分类为可能致病的关注问题
D Gareth Evans,Clare Turnbull,Emma R Woodward
D Gareth Evans
A2ML1 and otitis media: novel variants, differential expression, and relevant pathways [0.03%]
A2ML1和分泌性中耳炎：新变异体、差异表达及相关的信号通路
Eric D Larson,Jose Pedrito M Magno,Matthew J Steritz et al.
Eric D Larson et al.
A genetic basis for otitis media is established, however, the role of rare variants in disease etiology is largely unknown. Previously a duplication variant within A2ML1 was identified as a significant risk factor for otitis media in an ind...
Multicenter Study
Human mutation. 2019 Aug;40(8):1156-1171. DOI:10.1002/humu.23769 2019
Functional characterization of CEP250 variant identified in nonsyndromic retinitis pigmentosa [0.03%]
非综合性的视网膜色素变性中鉴定出的CEP250变异的功能表征
Xiu-Feng Huang,Lue Xiang,Xiao-Long Fang et al.
Xiu-Feng Huang et al.
Retinitis pigmentosa (RP) is the most common manifestation of inherited retinal diseases with high degree of genetic, allelic, and phenotypic heterogeneity. CEP250 encodes the C-Nap1 protein and has been associated with various retinal phen...
Response to: Concern regarding classification of germlineTP53 variants as likely pathogenic [0.03%]
对关于将生殖系TP53变异分类为可能致病的关注的回应
Kelvin C de Andrade,Megan N Frone,Talia Wegman-Ostrosky et al.
Kelvin C de Andrade et al.