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

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dc.contributor.authorMellado, Cecilia
dc.contributor.authorPoduri, Annapurna
dc.contributor.authorGleason, Danielle
dc.contributor.authorElhosary, Princess C.
dc.contributor.authorBarry, Brenda J.
dc.contributor.authorPartlow, Jennifer N.
dc.contributor.authorChang, Bernard S.
dc.contributor.authorShaw, Gary M.
dc.contributor.authorBarkovich, A. James
dc.contributor.authorWalsh, Christopher A.
dc.date.accessioned2024-01-10T13:46:33Z
dc.date.available2024-01-10T13:46:33Z
dc.date.issued2010
dc.description.abstractSchizencephaly 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. (C) 2010 Wiley-Liss, Inc.
dc.description.funderDepartment of Medicine, Children's Hospital Boston
dc.description.funderNIH/NINDS
dc.description.funderEUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH & HUMAN DEVELOPMENT
dc.description.funderEUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH &HUMAN DEVELOPMENT
dc.description.funderNATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE
dc.format.extent7 páginas
dc.fuente.origenORCID-ene24
dc.identifier.doi10.1002/ajmg.a.33684
dc.identifier.eissn1552-4833
dc.identifier.issn1552-4825
dc.identifier.pubmedidMEDLINE:20949537
dc.identifier.urihttps://doi.org/10.1002/ajmg.a.33684
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/79172
dc.identifier.wosidWOS:000284005700010
dc.information.autorucMedicina; Mellado C ;S/I;1002671
dc.issue.numero11
dc.language.isoen
dc.nota.accesoSin adjunto
dc.pagina.final2742
dc.pagina.inicio2736
dc.publisherWILEY
dc.revistaAMERICAN JOURNAL OF MEDICAL GENETICS PART A
dc.rightsregistro bibliográfico
dc.subjectschizencephaly
dc.subjectsepto-optic dysplasia
dc.subjectLHX1
dc.subjectHESX1
dc.subjectSOX2
dc.subjectSEPTO-OPTIC DYSPLASIA
dc.subjectMUTATIONS
dc.subjectEMX2
dc.subjectANOPHTHALMIA
dc.subjectPOPULATION
dc.subjectFEATURES
dc.subjectMICE
dc.subject.ods03 Good Health and Well-being
dc.subject.odspa03 Salud y bienestar
dc.titleCandidate Gene Sequencing of LHX2, HESX1, and SOX2 in a Large Schizencephaly Cohort
dc.typeartículo
dc.volumen152
sipa.codpersvinculados1002671
sipa.indexWOS
sipa.indexScopus
sipa.trazabilidadORCID;2024-01-15
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