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...
A novel MCMDC2 variant causes meiotic arrest and non-obstructive azoospermia in a consanguineous Chinese family [0.03%]
一个新的MCMDC2变异导致一个近亲结婚的中国家庭中发生减数分裂停滞和非阻塞性无精子症
Qi Fang,Lanxi Ran,Song Liu et al.
Qi Fang et al.
Non-obstructive azoospermia (NOA) is often associated with genetic variants. Whole-exome sequencing (WES) has emerged as a powerful tool in studying the genetic diagnosis of NOA and to help identify novel causal gene variants. Minichromosom...
Congenital disorders caused by aberrations in the biosynthesis of chondroitin/dermatan sulfate [0.03%]
生物合成软骨素/皮肤硫酸盐异常引起的先天性疾病
Tadahisa Mikami,Shuji Mizumoto,Hiroshi Kitagawa et al.
Tadahisa Mikami et al.
Chondroitin sulfate (CS)/dermatan sulfate (DS) proteoglycans that play indispensable roles in multiple physiological processes, including cell proliferation, cell adhesion, development, neuronal guidance, and cartilage formation. Depletion ...
Identification of two novel pathogenic mutations in the SKOR2 gene linked to cerebellar hypoplasia and a broad spectrum of neurodevelopmental delay in two Iranian families [0.03%]
伊朗两家族中SKOR2基因的两个新致病突变与小脑发育不全及广泛神经发育迟缓相关性的鉴定
Mohammad Ali Farazi Fard,Zahra Tabatabaei,Mobarakeh Ajam-Hosseini et al.
Mohammad Ali Farazi Fard et al.
SKOR2 is a transcriptional repressor expressed in central nervous system tissues, mainly in the Purkinje cells (PCs). This is essential for the proper migration, development, and differentiation of PCs at embryonic stages, and its disruptio...