Recurrent MBTPS2 variant c.970+5G>A in IFAP syndrome: a mutational hotspot [0.03%]
IFAP综合征中MBTPS2基因变异c.970+5G>A的重复出现：突变热点
Sheetal Kumar,Sohail Ahmed,Pietro Incardona et al.
Sheetal Kumar et al.
Ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome type I is a rare, X-linked disorder resulting from pathogenic variants in MBTPS2. Here we report a Pakistani IFAP pedigree of three affected individuals harboring the recurre...
ChatTogoVar: a TogoVar-based retrieval-augmented generation system for precise genomic variant interpretation [0.03%]
基于TogoVar的检索增强型生成系统ChatTogoVar用于精准基因组变异解读
Nobutaka Mitsuhashi,Toyofumi Fujiwara,Atsuko Yamaguchi
Nobutaka Mitsuhashi
Large language models (LLMs) have recently been adopted to assist in the interpretation of human genomic variants. However, general-purpose LLMs can produce incorrect outputs (commonly termed 'hallucinations'), particularly on specialized q...
Clinical features of syndromic microphthalmia in two novel RARB variants [0.03%]
两个新型RARB变异体的综合小眼症的临床特征
Yoshito Koyanagi,Hazuki Morikawa-Anzai,Tomoyo Yoshida et al.
Yoshito Koyanagi et al.
Here we describe unrelated Japanese patients with distinct novel heterozygous retinoic acid receptor beta (RARB) gene variants underlying syndromic microphthalmia-12: case 1 with a frameshift variant, c.1205_1206del, had bilateral microphth...
MSX1 variant causes nonsyndromic tooth agenesis in a Japanese patient [0.03%]
MSX1变异导致日本一名患者的非综合症性牙齿缺失
Yasuto Sano,Michiyo Ando,Reiko Tokuyama-Toda et al.
Yasuto Sano et al.
MSX1 variants are associated with autosomal dominant craniofacial developmental anomalies, including congenital tooth agenesis. Here, whole-exome sequencing in a Japanese patient with congenital tooth agenesis identified a novel de novo het...
Heterozygous frameshift KMT2A variant in a patient with Wiedemann-Steiner syndrome [0.03%]
Wiedemann-Steiner综合征患者中的杂合KMT2A框移变异
Sawako Hirai,Hiroshi Mitsubuchi,Shirou Matsumoto
Sawako Hirai
Here we report a case of a Japanese girl with Wiedemann-Steiner syndrome carrying a novel heterozygous frameshift variant of KMT2A (NM_001197104.2:c.10123del, p.Thr3375ProfsTer7). Her clinical features included severe pre- and postnatal gro...
Non-pterygium Escobar syndrome from compound-heterozygous CHRNG variants: genotype-phenotype insights [0.03%]
复合杂合CHRNG变异的非翼状胬肉埃斯科瓦尔综合征：基因型-表型洞察
Jun Kido,Hiroe Ueno,Yohei Misumi et al.
Jun Kido et al.
Escobar syndrome is a rare congenital disorder characterized by contractures, pterygia and craniofacial anomalies. Here we report a school-age girl harboring compound-heterozygous CHRNG variants, NM_005199.5:c.[2T>C];[428C>G] p.[(Met1?)];[(...
A novel loss-of-function mutation in MCMDC2 is associated with male infertility [0.03%]
MCMDC2失活突变与男性不育有关
Ori Cohen,Florence Abou,Netanel Waldenberg et al.
Ori Cohen et al.
ZMYND11 p.Arg600Trp variant associated with a distinctive neurodevelopmental phenotype [0.03%]
ZMYND11 p.Arg600Trp变异与特殊神经发育表型相关性研究
Hidetaka Yoshimatsu,Jun Kido,Takaaki Sawada et al.
Hidetaka Yoshimatsu et al.
Zinc finger MYND-type containing 11 (ZMYND11)-related neurodevelopmental disorder is an autosomal dominant condition caused by pathogenic variants in ZMYND11. Most previously reported patients harbor loss-of-function (LoF) variants, whereas...
Yuko Ozaki,Kyoko Yokoi,Yasuhisa Nakamura et al.
Yuko Ozaki et al.
Microcephaly with or without chorioretinopathy, lymphedema or mental retardation is a rare KIF11-related disorder. Here we report the case of a patient with microcephaly, lymphedema, nystagmus and familial exudative vitreoretinopathy carryi...
Population frequencies of thiopurine-related pharmacogenes in healthy individuals from Kosovo [0.03%]
科索沃地区健康人群中的硫嘌呤药物基因频率分布
Flaka Pasha,Dunja Urbančič,Gordana Gosheva et al.
Flaka Pasha et al.
Personalized thiopurine therapy is among the most established examples of pharmacogenomics translated into clinical practice. Variants in TPMT (rs1800462, rs1800460, rs1142345) and NUDT15 (rs116855232) are recognized clinical predictors of ...