Human Genome Variation (Jun 2022)

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
https://doi.org/10.1038/s41439-022-00199-5
Journal volume & issue
Vol. 9, no. 1
pp. 1 – 3

Abstract

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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.