Scoppettuolo Pasquale, Ligot Noémie, Wermenbol Vanessa, Van Bogaert Patrick, Naeije Gilles
Neurology Department, ULB-Hôpital Erasme, Université Libre de Bruxelles (ULB), Brussels, Belgium.
Neuropediatrics Department, ULB-Hôpital Erasme, Université Libre de Bruxelles (ULB), Brussels, Belgium.
Front Neurol. 2020 Sep 11;11:827. doi: 10.3389/fneur.2020.00827. eCollection 2020.
COL4A1 is an essential component for basal membrane stability. Exon mutations of the COL4A1 genes are responsible for a broad spectrum of cerebral, ocular, and systemic manifestations. We describe here the phenotype of a likely pathogenic gene variant, p.Gly743Val, which is responsible for a missense mutation in the COL4A1 gene exon 30 in a three generation family with severe hypermetropia and highly penetrant porencephaly in the absence of systemic manifestations. This report highlights both the broad spectrum of COL4A1 mutations and the yield of testing the COL4A1 gene in familial ophthalmological and brain disorders.
COL4A1是基底膜稳定性的重要组成部分。COL4A1基因的外显子突变会导致广泛的脑部、眼部和全身表现。我们在此描述一种可能致病的基因变异p.Gly743Val的表型，该变异在一个三代家族中导致COL4A1基因第30外显子的错义突变，该家族有严重远视和高度显性的脑穿通畸形，且无全身表现。本报告强调了COL4A1突变的广泛谱系以及在家族性眼科和脑部疾病中检测COL4A1基因的收益。
