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Optic Nerve Hypoplasia, Corpus Callosum Agenesis, Cataract, and Lissencephaly in a Neonate with a Novel COL4A1 Mutation

Authors :
Paolo Lanzetta
Nicolò Rassu
Silvia Pignatto
Paola Cogo
Lisa Grego
Eva Passone
Source :
Case Reports in Ophthalmology. 10:424-430
Publication Year :
2019
Publisher :
S. Karger AG, 2019.

Abstract

We report the case of a girl with a novel mutation of the COL4A gene (c.2716+2T>C) presenting microcephaly, parenchymal hemorrhages, lissencephaly, and bilateral cataracts, associated with agenesis of the corpus callosum and hypoplasia of the optic nerve. COL4A1, located on chromosome 13, encodes the α1 chain of type IV collagen, a key component of the basement membrane in various organs, such as eye, brain, kidneys, and muscles. Different mutations have been described and may remain asymptomatic or determine porencephaly, cerebral hemorrhages, renal cysts, hematuria, and dysgenesis of the anterior segment of the eye.

Details

ISSN :
16632699
Volume :
10
Database :
OpenAIRE
Journal :
Case Reports in Ophthalmology
Accession number :
edsair.doi...........38d8d9cbd0b3d5a38615a1fff84c77f9
Full Text :
https://doi.org/10.1159/000505017