Loss-of-function variant of SLC27A3 causes mitochondrial dysfunction and a metabolic neurodevelopmental disorder via impaired fatty acid transport [0.03%]
SLC27A3功能丧失变异通过影响脂肪酸转运导致线粒体功能障碍和代谢神经发育障碍
S Rehan Ahmad,Nazim Nasir,Anupriya Kumari et al.
S Rehan Ahmad et al.
Inborn errors of metabolism (IEMs) lead to early-onset neurodegenerative disorders often caused by mitochondrial dysfunction. In this study, we identified a homozygous frameshift mutation (c.283dupG; p.Cys65LeufsTer13) in SLC27A3, identifie...
Compound heterozygous variants of CACNA1H change channel properties and contribute to intractable epilepsy with myoclonic-atonic seizures [0.03%]
CACNA1H复合杂合变异改变通道特性并导致难治性肌阵挛-失张力癫痫发病
Ayumi Matsumoto,Go Kasuya,Suvd Tumurbaatar et al.
Ayumi Matsumoto et al.
The CACNA1H gene, which encodes the T-type calcium channel Cav3.2, is known to confer susceptibility to childhood absence epilepsy (CAE) and has been implicated in various neurological disorders. However, its pathogenic significance, especi...
Exploring socio-economic, biochemical, and genetic factors influencing thyroid status in Indian school-going adolescents [0.03%]
探索社会经济、生化和遗传因素对印度在校青少年甲状腺状态的影响
Janaki M Nair,Khushdeep Bandesh,Anil K Giri et al.
Janaki M Nair et al.
Thyroid hormones are central to regulating metabolism, growth, and development, yet their complex interactions with socioeconomic, metabolic, and genetic factors remain understudied in diverse populations. We compared thyroid profiles - fre...
Biallelic variants in TNR cause neurodevelopmental disorders with variable expressivity [0.03%]
TNR双等位基因变异引起表现型各异的神经发育障碍
Atsuhiro Ozaki,Masamune Sakamoto,Satoko Kumada et al.
Atsuhiro Ozaki et al.
Tenascin-R (TNR) is an extracellular matrix glycoprotein that is essential for the formation of perineuronal nets in the central nervous system and is critical for neurite outgrowth, synaptic plasticity, and neural stem cell proliferation a...
Correction: Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability [0.03%]
校正：ABCA2新杂合突变导致IDPOGSA，一种以智力障碍为主的表型变异综合征
Yuta Inoue,Naomi Tsuchida,Chong Ae Kim et al.
Yuta Inoue et al.
Published Erratum
Journal of human genetics. 2025 Nov 10. DOI:10.1038/s10038-025-01422-1 2025
Whole-genome sequencing of 3135 individuals representing the genetic diversity of the Japanese population [0.03%]
对日本人口遗传多样性代表性个体的全基因组测序（3135人）
Koichiro Higasa,Yoichiro Kamatani,Takahisa Kawaguchi et al.
Koichiro Higasa et al.
Whole-genome sequence information currently available for large-scale sequencing studies is biased toward European descent populations. Such bias causes difficulties in identifying disease-associated genetic variations in non-European popul...
Long-read genomic analyses to elucidate hidden structural variations associated with MECP2 duplication syndrome [0.03%]
利用长读测序分析阐明与MECP2重复综合征相关的隐匿性结构变异
Qiaowei Liang,Yuri Uchiyama,Rie Seyama et al.
Qiaowei Liang et al.
MECP2 duplication syndrome results from duplication of the MECP2 gene, encoding methyl-CpG-binding protein 2. Structural variations in this region can be detected by short-read next-generation sequencing, but resolving its precise genomic a...
Genetic disruption of satellite cell function underlying congenital myopathies [0.03%]
遗传性肌病发病中卫星细胞功能障碍的基因调控
Shinichiro Hayashi
Shinichiro Hayashi
Congenital myopathies are a group of genetically heterogeneous neuromuscular disorders characterized by early-onset hypotonia and muscle weakness. While many congenital myopathies have historically been attributed to structural defects in m...
Functional and pharmacological investigation of novel and de novo KCND3 variants identified in patients with neurodevelopmental disorders [0.03%]
神经发育障碍患者中新发现的和新发的KCND3变异体的功能和药理学研究
Byambajav Tserenlkham,Koichiro Takayama,Dimitar P Zankov et al.
Byambajav Tserenlkham et al.
Sudden unexpected death in epilepsy (SUDEP) is one of the most frequent causes of death in patients with epilepsy, though the pathogenesis of SUDEP has not been well elucidated. Here, we report novel heterozygous KCND3 variants, p.V401L and...
PHOX2B deletion in congenital central hypoventilation syndrome: is this sufficient for pathogenesis? [0.03%]
先天性中枢性换气不足综合征中PHOX2B基因缺失与疾病发病机制的关系研究
Kiyoshi Hayasaka,Ayako Sasaki,Yumiko Kishikawa et al.
Kiyoshi Hayasaka et al.
Congenital central hypoventilation syndrome (CCHS) is primarily caused by dominant PHOX2B mutations, with recessive LBX1 or MYO1H mutations being rare. Among PHOX2B mutations, polyalanine repeat expansion mutations (PARMs) are common, where...