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

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

doi:10.1038/s41439-022-00199-5

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

Hum Genome Var. 2022 Jun 10;9(1):24. doi: 10.1038/s41439-022-00199-5.

Authors

Affiliations

¹ Department of Pediatrics, Juntendo University Faculty of Medicine, Tokyo, Japan.
² Department of Pediatrics, Juntendo University Faculty of Medicine, Tokyo, Japan. taikuse@juntendo.ac.jp.
³ Diagnostics and Therapeutics of Intractable Diseases and Intractable Disease Research Center, Juntendo University Graduate School of Medicine, Tokyo, Japan.

Abstract

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.