Optic Nerve Hypoplasia, Corpus Callosum Agenesis, Cataract, and Lissencephaly in a Neonate with a NovelCOL4A1 Mutation

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...

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Autores principales: Grego, Lisa, Pignatto, Silvia, Rassu, Nicolò, Passone, Eva, Cogo, Paola, Lanzetta, Paolo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6959118/
https://www.ncbi.nlm.nih.gov/pubmed/31966034
http://dx.doi.org/10.1159/000505017
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author Grego, Lisa
Pignatto, Silvia
Rassu, Nicolò
Passone, Eva
Cogo, Paola
Lanzetta, Paolo
author_facet Grego, Lisa
Pignatto, Silvia
Rassu, Nicolò
Passone, Eva
Cogo, Paola
Lanzetta, Paolo
author_sort Grego, Lisa
collection PubMed
description 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.
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spelling pubmed-69591182020-01-21 Optic Nerve Hypoplasia, Corpus Callosum Agenesis, Cataract, and Lissencephaly in a Neonate with a NovelCOL4A1 Mutation Grego, Lisa Pignatto, Silvia Rassu, Nicolò Passone, Eva Cogo, Paola Lanzetta, Paolo Case Rep Ophthalmol Case Report 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. S. Karger AG 2019-12-17 /pmc/articles/PMC6959118/ /pubmed/31966034 http://dx.doi.org/10.1159/000505017 Text en Copyright © 2019 by S. Karger AG, Basel http://creativecommons.org/licenses/by-nc/4.0/ This article is licensed under the Creative Commons Attribution-NonCommercial-4.0 International License (CC BY-NC) (http://www.karger.com/Services/OpenAccessLicense). Usage and distribution for commercial purposes requires written permission.
spellingShingle Case Report
Grego, Lisa
Pignatto, Silvia
Rassu, Nicolò
Passone, Eva
Cogo, Paola
Lanzetta, Paolo
Optic Nerve Hypoplasia, Corpus Callosum Agenesis, Cataract, and Lissencephaly in a Neonate with a NovelCOL4A1 Mutation
title Optic Nerve Hypoplasia, Corpus Callosum Agenesis, Cataract, and Lissencephaly in a Neonate with a NovelCOL4A1 Mutation
title_full Optic Nerve Hypoplasia, Corpus Callosum Agenesis, Cataract, and Lissencephaly in a Neonate with a NovelCOL4A1 Mutation
title_fullStr Optic Nerve Hypoplasia, Corpus Callosum Agenesis, Cataract, and Lissencephaly in a Neonate with a NovelCOL4A1 Mutation
title_full_unstemmed Optic Nerve Hypoplasia, Corpus Callosum Agenesis, Cataract, and Lissencephaly in a Neonate with a NovelCOL4A1 Mutation
title_short Optic Nerve Hypoplasia, Corpus Callosum Agenesis, Cataract, and Lissencephaly in a Neonate with a NovelCOL4A1 Mutation
title_sort optic nerve hypoplasia, corpus callosum agenesis, cataract, and lissencephaly in a neonate with a novelcol4a1 mutation
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6959118/
https://www.ncbi.nlm.nih.gov/pubmed/31966034
http://dx.doi.org/10.1159/000505017
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