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Candidate Gene Sequencing of LHX2, HESX1, and SOX2 in a Large Schizencephaly Cohort

Schizencephaly is a malformation of cortical development characterized by gray matter-lined clefts in the cerebral cortex and a range of neurological presentations. In some cases, there are features of septo-optic dysplasia concurrently with schizencephaly. The etiologies of both schizencephaly and...

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Autores principales: Mellado, Cecilia, Poduri, Annapurna, Gleason, Danielle, Elhosary, Princess C, Barry, Brenda J, Partlow, Jennifer N, Chang, Bernard S, Shaw, Gary M, Barkovich, A James, Walsh, Christopher A
Formato: Texto
Lenguaje:English
Publicado: Wiley Subscription Services, Inc., A Wiley Company 2010
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2965295/
https://www.ncbi.nlm.nih.gov/pubmed/20949537
http://dx.doi.org/10.1002/ajmg.a.33684
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author Mellado, Cecilia
Poduri, Annapurna
Gleason, Danielle
Elhosary, Princess C
Barry, Brenda J
Partlow, Jennifer N
Chang, Bernard S
Shaw, Gary M
Barkovich, A James
Walsh, Christopher A
author_facet Mellado, Cecilia
Poduri, Annapurna
Gleason, Danielle
Elhosary, Princess C
Barry, Brenda J
Partlow, Jennifer N
Chang, Bernard S
Shaw, Gary M
Barkovich, A James
Walsh, Christopher A
author_sort Mellado, Cecilia
collection PubMed
description Schizencephaly is a malformation of cortical development characterized by gray matter-lined clefts in the cerebral cortex and a range of neurological presentations. In some cases, there are features of septo-optic dysplasia concurrently with schizencephaly. The etiologies of both schizencephaly and septo-optic dysplasia are thought to be heterogeneous, but there is evidence that at least some cases have genetic origin. We hypothesized that these disorders may be caused by mutations in three candidate genes: LHX2, a gene with an important cortical patterning role, and HESX1 and SOX2, genes that have been associated with septo-optic dysplasia. We sequenced a large cohort of patients with schizencephaly, some with features of septo-optic dysplasia, for mutations in these genes. No pathogenic mutations were observed, suggesting that other genes or non-genetic factors influencing genes critical to brain development must be responsible for schizencephaly. © 2010 Wiley-Liss, Inc.
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spelling pubmed-29652952011-05-01 Candidate Gene Sequencing of LHX2, HESX1, and SOX2 in a Large Schizencephaly Cohort Mellado, Cecilia Poduri, Annapurna Gleason, Danielle Elhosary, Princess C Barry, Brenda J Partlow, Jennifer N Chang, Bernard S Shaw, Gary M Barkovich, A James Walsh, Christopher A Am J Med Genet A Research Articles Schizencephaly is a malformation of cortical development characterized by gray matter-lined clefts in the cerebral cortex and a range of neurological presentations. In some cases, there are features of septo-optic dysplasia concurrently with schizencephaly. The etiologies of both schizencephaly and septo-optic dysplasia are thought to be heterogeneous, but there is evidence that at least some cases have genetic origin. We hypothesized that these disorders may be caused by mutations in three candidate genes: LHX2, a gene with an important cortical patterning role, and HESX1 and SOX2, genes that have been associated with septo-optic dysplasia. We sequenced a large cohort of patients with schizencephaly, some with features of septo-optic dysplasia, for mutations in these genes. No pathogenic mutations were observed, suggesting that other genes or non-genetic factors influencing genes critical to brain development must be responsible for schizencephaly. © 2010 Wiley-Liss, Inc. Wiley Subscription Services, Inc., A Wiley Company 2010-11 2010-10-11 /pmc/articles/PMC2965295/ /pubmed/20949537 http://dx.doi.org/10.1002/ajmg.a.33684 Text en Copyright © 2010 Wiley-Liss, Inc. http://creativecommons.org/licenses/by/2.5/ Re-use of this article is permitted in accordance with the Creative Commons Deed, Attribution 2.5, which does not permit commercial exploitation.
spellingShingle Research Articles
Mellado, Cecilia
Poduri, Annapurna
Gleason, Danielle
Elhosary, Princess C
Barry, Brenda J
Partlow, Jennifer N
Chang, Bernard S
Shaw, Gary M
Barkovich, A James
Walsh, Christopher A
Candidate Gene Sequencing of LHX2, HESX1, and SOX2 in a Large Schizencephaly Cohort
title Candidate Gene Sequencing of LHX2, HESX1, and SOX2 in a Large Schizencephaly Cohort
title_full Candidate Gene Sequencing of LHX2, HESX1, and SOX2 in a Large Schizencephaly Cohort
title_fullStr Candidate Gene Sequencing of LHX2, HESX1, and SOX2 in a Large Schizencephaly Cohort
title_full_unstemmed Candidate Gene Sequencing of LHX2, HESX1, and SOX2 in a Large Schizencephaly Cohort
title_short Candidate Gene Sequencing of LHX2, HESX1, and SOX2 in a Large Schizencephaly Cohort
title_sort candidate gene sequencing of lhx2, hesx1, and sox2 in a large schizencephaly cohort
topic Research Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2965295/
https://www.ncbi.nlm.nih.gov/pubmed/20949537
http://dx.doi.org/10.1002/ajmg.a.33684
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