新生儿多发颅内出血和先天性白内障的COL4A1变异。

IF 1 Q4 GENETICS & HEREDITY

Human Genome Variation Pub Date : 2022-06-10 DOI:10.1038/s41439-022-00199-5

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

引用次数: 0

摘要

一个2天大的新生儿表现为癫痫发作，多发颅内出血和双侧先天性白内障。胶原蛋白IV型α 1链(COL4A1)基因的新一代靶向测序显示了一个杂合的新生错义变异(NM_001845.6:c.2291G> a /p.Gly764Asp)。这种错义变体增加了COL4A1变体的目录，并与COL4A1相关疾病相关。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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

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

A 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.

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来源期刊

Human Genome Variation Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

2.30

自引率

0.00%

发文量

审稿时长

13 weeks