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- Title
A COL4A1 variant in a neonate with multiple intracranial hemorrhages and congenital cataracts.
- Authors
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
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.
- Subjects
INTRACRANIAL hemorrhage; MISSENSE mutation; CATARACT; NEWBORN infants; NUCLEOTIDE sequencing
- Publication
Human Genome Variation, 2022, Vol 9, Issue 1, p1
- ISSN
2054-345X
- Publication type
Article
- DOI
10.1038/s41439-022-00199-5