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 mi...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9187765/
https://www.ncbi.nlm.nih.gov/pubmed/35688819
http://dx.doi.org/10.1038/s41439-022-00199-5
Descripción
Sumario: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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