Overlapping microdeletions involving 15q22.2 narrow the critical region for intellectual disability to NARG2 and RORA.
Eur J Med Genet
; 57(4): 163-8, 2014 Mar.
Article
em En
| MEDLINE
| ID: mdl-24525055
ABSTRACT
Microdeletions in the 15q22 region have not been well documented. We collected genotype and phenotype data from five patients with microdeletions involving 15q22.2, which were between 0.7 Mb and 6.5 Mb in size; two were of de novo origin and one was of familial origin. Intellectual disability and epilepsy are frequently observed in patients with 15q22.2 deletions. Genotype-phenotype correlation analysis narrowed the critical region for such neurologic symptoms to a genomic region of 654 Kb including the NMDA receptor-regulated 2 gene (NARG2) and the PAR-related orphan receptor A gene (RORA), either of which may be responsible for neurological symptoms commonly observed in patients with deletions in this region. The neighboring regions, including the forkhead box B1 gene (FOXB1), may also be related to the additional neurological features observed in the patients with larger deletions.
Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Cromossomos Humanos Par 15
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Proteínas Nucleares
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Deleção Cromossômica
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Membro 1 do Grupo F da Subfamília 1 de Receptores Nucleares
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Estudos de Associação Genética
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Deficiência Intelectual
Tipo de estudo:
Prognostic_studies
Limite:
Adolescent
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Adult
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Child, preschool
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Female
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Humans
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Male
Idioma:
En
Revista:
Eur J Med Genet
Assunto da revista:
GENETICA MEDICA
Ano de publicação:
2014
Tipo de documento:
Article