Correction: NGLY1 deficiency - clinical features and therapeutic strategy [0.03%]
NGLY1缺乏症的临床特征和治疗策略纠正报告
Haruhiko Fujihira,Hiroto Hirayama,Tadashi Suzuki
Haruhiko Fujihira
Published Erratum
Journal of human genetics. 2025 Oct 14. DOI:10.1038/s10038-025-01416-z 2025
FRAXE-associated intellectual disability: clinical and molecular insights into an underdiagnosed condition [0.03%]
FRAXE相关性智障：一种易被忽略疾病的临床和分子研究新进展
Isabel Serra Nunes,Maria Abreu,Jorge Diogo Da Silva et al.
Isabel Serra Nunes et al.
FRAXE-associated intellectual developmental disorder (FRAXE-ID) is a rare X-linked condition resulting from disruption of the AFF2 gene, usually through expansion of more than 200 CCG repeats and subsequent hypermethylation. Despite an esti...
A novel homozygous COX6A1 variant causes axonal charcot-marie-tooth disease, developmental delays and mitochondrial dysfunction [0.03%]
新的COX6A1同源变异导致轴索型查理-玛丽- Tooth疾病，发育迟缓和线粒体功能障碍
Qianyun Cai,Haijiao Wang,Rong Luo et al.
Qianyun Cai et al.
Mitochondrial complex IV (cytochrome c oxidase, COX) is essential for oxidative phosphorylation, and pathogenic variants of COX-related genes, such as COX6A1, are associated with neuromuscular disorders. While recessive COX6A1 variants are ...
Perinatal outcomes of fetal CNVs detected by genome-wide non-invasive prenatal testing in Japan [0.03%]
日本产前无创性非整倍体基因检测中胎儿全基因组拷贝数变异的围生期结局分析
Yuka Yamashita,Nahoko Shirato,Tatsuko Ishii et al.
Yuka Yamashita et al.
Non-invasive prenatal testing (NIPT) enables the screening of fetal chromosomal abnormalities by analyzing cell-free DNA (cfDNA) in maternal blood. Recent technological advancements have expanded its applications to the detection of copy nu...
Yoshiko Murakami
Yoshiko Murakami
Glycosylphosphatidylinositol (GPI) anchoring is a widely conserved post-translational modification in eukaryotes, in which various proteins-such as receptors, cell adhesion molecules, and complement regulatory proteins-are modified with a G...
Balanced chromosomal insertions as the mechanism of recurrent familial microstructural abnormalities: detailed analyses using long-read whole-genome sequencing [0.03%]
利用长读测序进行的详细分析表明平衡染色体插入是微结构异常反复出现的家族性机制
Hironao Shirai,Keiko Shimojima Yamamoto,Hirokazu Arai et al.
Hironao Shirai et al.
Chromosomal insertions are a type of structural abnormality. While individuals with balanced insertions are typically asymptomatic, their offspring may have unbalanced abnormalities. We report two families with recurrent microstructural chr...
LEO1 haploinsufficiency is associated with developmental delays and autism spectrum disorder [0.03%]
LEO1单基因不足与发育迟缓和自闭症谱系障碍相关
Emilie C Ung,Nicholas A Borja
Emilie C Ung
LEO1 encodes a core subunit of the evolutionarily conserved RNA polymerase associated factor 1 complex (PAF1C), a key regulator of eukaryotic gene expression. While burden analyses suggest an association between rare LEO1 variants and an in...
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 ...