TULP1 mutation in two extended Dominican kindreds with autosomal recessive retinitis pigmentosa.
Nat Genet
; 18(2): 177-9, 1998 Feb.
Article
em En
| MEDLINE
| ID: mdl-9462751
ABSTRACT
The RP14 autosomal recessive Retinitis pigmentosa (arRP) locus has been mapped to a 2cM region of chromosome 6p21.3. TULP1 (the gene encoding tubby-like protein 1) is a candidate target for the disease mutation because it maps to the RP14 minimum genetic region and because a mutation in the highly homologous mouse tub gene leads to obesity, deafness and early progressive retinal degeneration. Here we report a splice-site mutation (IVS14+1, G-->A) that is homozygous in all affected individuals (N=33) and heterozygous in all obligate carriers (N=50) from two RP14-linked kindreds. The mutation was not observed in 210 unrelated controls. The data indicate that impairment of TULP1 protein function is a rare cause of arRP and that the normal protein plays an essential role in the physiology of the retina.
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Base de dados:
MEDLINE
Assunto principal:
Retinose Pigmentar
/
Proteínas do Olho
/
Genes Recessivos
Idioma:
En
Ano de publicação:
1998
Tipo de documento:
Article