A COL4A1 variant in a neonate with multiple intracranial hemorrhages and congenital cataracts-Reference-Cited by-同舟云学术

A COL4A1 variant in a neonate with multiple intracranial hemorrhages and congenital cataracts

Published:2022-06-10 Issue:1 Volume:9 Page:
ISSN:2054-345X
Container-title:Human Genome Variation
language:en
Short-container-title:Hum Genome Var

Author:

Yakabe Ayane,Ikuse Tamaki,Ito Natsuki,Yamada Hiromichi,Saito Nobutomo,Kitamura Yuri,Iwasaki Tomohiro,Ikeno Mitsuru,Suganuma Hiroki,Abe Shinpei,Miyazaki Nao,Hisata Ken,Shoji Hiromichi,Nakazawa Tomoyuki,Eguchi Hidetaka,Shimizu Toshiaki

Abstract

AbstractA 2-day-old neonate presented with seizures, multiple intracranial hemorrhages, and bilateral congenital cataracts. Targeted next-generation sequencing of the collagen type IV alpha 1 chain (COL4A1) gene revealed a heterozygous de novo missense variant (NM_001845.6:c.2291G>A/p.Gly764Asp). This missense variant adds to the compendium of COL4A1 variants and is associated with a COL4A1-related disorder.

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Molecular Biology,Biochemistry

Link

https://www.nature.com/articles/s41439-022-00199-5.pdf

Reference4 articles.

1. Lanfranconi, S. & Markus, H. S. COL4A1 mutations as a monogenic cause of cerebral small vessel disease: a systematic review. Stroke 41, e513–e518 (2010).

2. Kuo, D. S., Labelle-Dumais, C. & Gould, D. B. COL4A1 and COL4A2 mutations and disease: insights into pathogenic mechanisms and potential therapeutic targets. Hum. Mol. Genet. 21, 97–110 (2012).

3. Meuwissen, M. E. et al. The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature. Genet. Med. 17, 843–853 (2015).

4. Richards, S. et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet. Med. 17, 405–423 (2015).

Cited by 1 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Identification of seven variants in the col4a1 gene that alter RNA splicing by minigene assay;Clinical Genetics;2024-05-15