A COL4A1 variant in a neonate with multiple intracranial hemorrhages and congenital cataracts
Ayane Yakabe1, Tamaki Ikuse2, Natsuki Ito1
1Department of Pediatrics, Juntendo University Faculty of Medicine, Tokyo, Japan.
Human Genome Variation
|June 10, 2022
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.


