Functional evidence for SCN8A splice-donor variant c.4419+1 A > G causing loss of function [0.03%]
SCN8A剪切供体变异体c.4419+1 A>G失活的实验证据
Takashi Shibata,Tomoyuki Akiyama,Takuma Harasaki et al.
Takashi Shibata et al.
We report a child with severe developmental and epileptic encephalopathy carrying a rare SCN8A splice‑site variant. Although its pathogenicity was initially unclear, a minigene assay demonstrated aberrant splicing, indicating a loss‑of‑f...
Hiromi Nyuzuki,Aya Miura,Takuma Yamamoto et al.
Hiromi Nyuzuki et al.
Carnitine-acylcarnitine translocase deficiency is a severe neonatal metabolic disorder caused by SLC25A20 variants. We report a case of sudden neonatal death in which post-mortem CT revealed diffuse fatty liver, and subsequent genetic analy...
Yuka Ito,Hiroshi Suzumura,Yuko Tanaka et al.
Yuka Ito et al.
Marfan syndrome is caused by pathogenic variants in FBN1. We identified a novel heterozygous frameshift variant in FBN1 (NM_000138.5: c.6784_6787del, NP_000129.3:p.(Gln2262TrpfsTer28)) in an adult male with severe cardiovascular manifestati...
Integrated targeted whole-genome and RNA-sequencing analysis of an intronic GNE variant in GNE myopathy [0.03%]
GNE肌病内含子GNE变异的整合靶向全基因组和RNA测序分析
Nozomi Toide,Ryo Iwase,Mitsugu Yanagidaira et al.
Nozomi Toide et al.
GNE myopathy is a rare autosomal recessive myopathy caused by biallelic pathogenic variants in GNE, which encodes an essential enzyme for sialic acid biosynthesis. Most variants are located in exonic regions, whereas significance of introni...
Cleidocranial dysplasia caused by a novel de novo RUNX2 splice-site variant [0.03%]
新型的脱靶RUNX2剪接位点突变引起的克氏颅骨发育不良症
Hitoshi Kashiki,Jun Kido,Yohei Misumi et al.
Hitoshi Kashiki et al.
Cleidocranial dysplasia is an autosomal dominant disorder caused by RUNX2 variants. We report a Japanese boy with enlarged fontanelles in infancy, initially suspected of hypophosphatasia. Exome sequencing identified a novel de novo RUNX2 sp...
Carney complex with PRKAR1A variant and breast/fibrolamellar carcinomas [0.03%]
携带PRKAR1A变异的卡尔尼氏综合征伴乳腺和纤维粘液性癌
Abílio Alonso Colares Perez,Laura Pinheiro Correia,Régis Ponte Conrado et al.
Abílio Alonso Colares Perez et al.
Carney complex is a rare multiple neoplasia syndrome caused primarily by inactivating variants in the PRKAR1A gene, which encodes the regulatory subunit type I alpha of protein kinase A. Although classically associated with myxomas, lentigi...
Clinical, genetics and in silico analysis of a novel BSCL2 variant in a patient with CGL2 from Iranian Azeri Turkish ethnic group: expanding the genotypic spectrum through a comparative review [0.03%]
BSCL2新型变异临床、遗传学及通过比较分析回顾扩展基因型谱系的CGL2患者研究（伊朗阿塞拜疆土耳其族）
Hadi Bazmi,Neda Jabbarpour,Asma Alizadeh Asghari et al.
Hadi Bazmi et al.
Congenital generalized lipodystrophy type 2 is a rare autosomal recessive disorder caused by mutation in the BSCL2 gene. Here we report a novel variant (NM_001122955.4:c.828_835dup p.(Arg279ProfsTer21)) in an 18-year-old female with congeni...
Duplication of 4-bp in SACS leads to autosomal recessive spastic ataxia of Charlevoix-Saguenay type in two Pakistani patients [0.03%]
SACS基因四碱基重复导致两种查尔维克斯-萨格奈型遗传性痉挛性共济失调患儿的常染色体隐性遗传病
Saba Bibi,Asad Munir,Fawad Ali et al.
Saba Bibi et al.
In this study, we present two patients from a Pakistani family affected by autosomal recessive spastic ataxia of Charlevoix-Saguenay, a rare neurodegenerative disorder. Exome sequencing identified a homozygous 4-bp duplication (NM_014363.6:...
Pontocerebellar hypoplasia type 9 with a novel combination of compound heterozygous variants in AMPD2 [0.03%]
AMPD2复合杂合变异引起的 pontocerebellar 型脑小畸形伴新表型
Shuhei Dohi,Junko Hotta,Kosuke Ito et al.
Shuhei Dohi et al.
Long-read RNA sequencing reveals extensive transcript isoform changes in a patient with IFAP syndrome with a recurrent intronic MBTPS2 variant [0.03%]
基于长读RNA测序揭示的IFAP综合征患者的MBTPS2内含子变异引起的广泛转录本异构体变化
Toshihiko Iwaki,Yosuke Nishio,Sachiyo Takagi et al.
Toshihiko Iwaki et al.
Hemizygous pathogenic variants in MBTPS2 located at Xp22.12 cause IFAP syndrome, which is characterized by the triad of ichthyosis, alopecia and photophobia. Here we identified a hemizygous intronic variant in MBTPS2 (NM_015884: c.970+5G>A)...