Autosomal dominant retinitis pigmentosa secondary to pre-mRNA splicing-factor gene PRPF31 (RP11): review of disease mechanism and report of a family with a novel 3-base pair insertion.
Ophthalmic Genet
; 34(4): 183-8, 2013 Dec.
Article
em En
| MEDLINE
| ID: mdl-23343310
ABSTRACT
Several forms of autosomal dominant retinitis pigmentosa (adRP) are caused by mutations in genes encoding proteins that are ubiquitously expressed and involved in the pre-mRNA spliceosome such as PRPF31. This paper provides an overview of the molecular genetics, pathophysiology, and mechanism for incomplete penetrance and retina-specific disease in pedigrees of families who harbor mutations in PRPF31 (RP11). The molecular and clinical features of a family with a novel 3-base insertion, c.914_915insTGT (p.Val305_Asp306insVal) in exon 9 of PRPF31 are described to illustrate the salient clinical features of mutations in this gene.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Precursores de RNA
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Retinose Pigmentar
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Splicing de RNA
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Mutagênese Insercional
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Spliceossomos
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Proteínas do Olho
Limite:
Female
/
Humans
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Middle aged
Idioma:
En
Revista:
Ophthalmic Genet
Assunto da revista:
GENETICA MEDICA
/
OFTALMOLOGIA
Ano de publicação:
2013
Tipo de documento:
Article