Meiotic determinants of unbalanced gametogenesis in chromosomal inversion carriers [0.03%]
染色体倒位携带者不平衡配子发生的相关因素研究
Shuo Zhang,Yaqiong He,Yao Lu et al.
Shuo Zhang et al.
Preimplantation genetic testing for structural rearrangements (PGT-SR) has already been applied in inversion carriers. However, it has not been well clarified which inversion carriers should be recommended for PGT-SR in clinical practice. I...
The c.644 G > A p.(Trp215*) founder variant in the CLIC5 gene causes progressive autosomal recessive deafness 103 (DFNB103) in Eastern Siberia [0.03%]
CLIC5基因的c.644G>A(p.Trp215*)创始人变异导致西伯利亚东部常染色体隐性遗传感觉神经性聋103型(DFNB103)
Vera G Pshennikova,Fedor M Teryutin,Tuyara V Borisova et al.
Vera G Pshennikova et al.
Previously only two families were known with progressive autosomal recessive deafness 103 (DFNB103, OMIM616042) caused by pathogenic variants of the CLIC5 gene. In this study we present the novel truncating variant c.644 G > A p.(Trp215*) o...
Evidence of maternal inheritance of Nizon-Isidor syndrome in an individual with GAMT and TNFRSF13B sequence variants [0.03%]
GAMT和TNFRSF13B序列变异携带者的Nizon-Isidor综合征母系遗传证据
Dibyendu Dutta,Jennifer Black,Daniela Macaya et al.
Dibyendu Dutta et al.
Nizon-Isidor syndrome (NIZIDS) is a rare neurodevelopmental disorder caused by heterozygous MED12L variants, where previously pathogenic single-nucleotide variants (SNVs) were only reported as de novo events. Here, we report the first case ...
Diversity challenges and reconciles genetics in facioscapulohumeral muscular dystrophy [0.03%]
遗传多样性的挑战与面对颜面肩肱型肌营养不良症的和解
Mitsuru Sasaki-Honda,Takumi Kishimoto,Hidetoshi Sakurai
Mitsuru Sasaki-Honda
Facioscapulohumeral muscular dystrophy (FSHD) is a rare genetic disease with an estimated prevalence of no more than 1 in 8000; however, it is among the most common myopathies affecting global populations. This condition is classically cate...
Novel biallelic CDK9 variants are associated with retinal dystrophy without CHARGE-like malformation syndrome [0.03%]
新的双等位基因CDK9变异与无CHARGE样畸形综合征视网膜营养不良相关
Sachiko Nishina,Kaoruko Torii,Shizuka Ishitani et al.
Sachiko Nishina et al.
Cyclin-dependent kinase 9 (CDK9) phosphorylates the C-terminal domain of RNA polymerase II (RNAPII) to regulate transcription. Previously, we reported that an 8-year-old boy with the biallelic CDK9 variants p.A288T and p.R303C exhibited a C...
Functional analysis of novel and recurrent RINT1 variants in patients with infantile liver dysfunction [0.03%]
新型和复发性RINT1变异体导致婴儿期肝功能障碍的功能分析
Taiga Aoki,Ayano Inui,Yoshiyasu Ogata et al.
Taiga Aoki et al.
Rad50-interacting protein (RINT1) interacts with the endoplasmic reticulum (ER) tethering and SNARE complex, playing a central role in membrane trafficking and lipid metabolism. Loss-of-function variants of RINT1 have been related to episod...
Whole exome sequencing in Japanese spinocerebellar ataxia identifies novel variants [0.03%]
日本脊髓小脑性共济失调的外显子组测序鉴定出新的变异型
Tomoaki Watanabe,Kodai Kume,Ken Inoue et al.
Tomoaki Watanabe et al.
Spinocerebellar degeneration (SCD) is a clinically and genetically diverse group, and the dominant form of SCD (AD-SCD) is generally referred to as spinocerebellar ataxia (SCA) that primarily affects the cerebellum. Some patients do not hav...
Germline pathogenic variants detected by GenMineTOP: insight from a nationwide tumor/normal paired comprehensive genomic profiling test, in Japan [0.03%]
GenMineTOP检测的胚系致病性变异在日本肿瘤/正常配对全面基因组Profiling测试中的见解
Eri Habano,Miho Ogawa,Kousuke Watanabe et al.
Eri Habano et al.
Comprehensive genomic profiling (CGP) expands treatment options for solid tumor patients and identifies hereditary cancers. However, in Japan, confirmatory tests have been conducted in only 31.6% of patients with presumed germline pathogeni...
Augmenting cost-effectiveness in clinical diagnosis using extended whole-exome sequencing: SNVs, SVs, and beyond [0.03%]
利用扩展外显子组测序增强临床诊断的成本效益：从SNV到SV及以后
Fuyuki Miya,Daisuke Nakato,Hisato Suzuki et al.
Fuyuki Miya et al.
In standard short-read whole-exome sequencing (WES), capture probes are typically designed to target the protein-coding regions (CDS), and regions outside the exons-except for adjacent intronic sequences-are rarely sequenced. Although the m...
Wakako Yoshioka,Satoru Noguchi,Ichizo Nishino
Wakako Yoshioka
GNE myopathy is an autosomal recessive distal myopathy resulting from biallelic pathogenic variants in the GNE gene, a key enzyme in sialic acid biosynthesis. Although most pathogenic variants are missense variants, recent advances have ena...