TULP1 mutation in two extended Dominican kindreds with autosomal recessive Retinitis pigmentosa
- 1 February 1998
- journal article
- letter
- Published by Springer Nature in Nature Genetics
- Vol. 18 (2) , 177-179
- https://doi.org/10.1038/ng0298-177
Abstract
The RP14 autosomal recessive Retinitis pigmentosa (arRP) locus has been mapped to a 2cM region of chromosome 6p21.3 (refs 1–3). 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 degeneration4–6. 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 RP14-1 inked 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.Keywords
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