p.Gly743Val Mutation in COL4A1 Is Responsible for Familial Porencephaly and Severe Hypermetropia

p.Gly743Val Mutation in COL4A1 Is Responsible for Familial Porencephaly and Severe Hypermetropia

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 missens...

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Bibliographic Details
Main Authors: Pasquale Scoppettuolo, Noémie Ligot, Vanessa Wermenbol, Patrick Van Bogaert, Gilles Naeije
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-09-01
Series:Frontiers in Neurology
Subjects:
COL4A1
Type IV collagen
familial porencephaly
ocular malformations
variable expressivity
Online Access:https://www.frontiersin.org/article/10.3389/fneur.2020.00827/full

Internet

https://www.frontiersin.org/article/10.3389/fneur.2020.00827/full

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