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Severe autosomal dominant retinitis pigmentosa caused by a novel rhodopsin mutation (Ter349Glu)

✍ Scribed by David A.R. Bessant; Shagufta Khaliq; Abdul Hameed; Khalid Anwar; Annette M. Payne; S. Qasim Mehdi; Shomi S. Bhattacharya

Publisher: John Wiley and Sons
Year: 1999
Tongue: English
Weight: 124 KB
Volume: 13
Category: Article
ISSN: 1059-7794
DOI: 10.1002/(sici)1098-1004(1999)13:1<83::aid-humu12>3.0.co;2-5

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✦ Synopsis

Mutations in the rhodopsin gene are reported to be responsible for approximately 25% of all cases of autosomal dominant Retinitis pigmentosa (adRP). Affected individuals from a large family with an unusually severe form of adRP were screened for mutations in the rhodopsin gene. Direct sequencing of exon 5 revealed a TAA to GAA transversion at nucleotide 5276 / codon 349, which was confirmed by Dde1 restriction digest analysis. This change would replace the normal termination codon with a glutamic acid residue (Ter-349-Glu, or X349E). The next predicted termination codon (TAA) lies 153bp downstream at nucleotides 5429 to 5431. Termination of transcription at this point would add an additional 51 amino-acid residues to the carboxy terminus of the rhodopsin molecule. This mutation is unique in producing a mutant rhodopsin in which all of the normal 348 amino-acid residues remain intact. It produces one of the most severe adRP phenotypes ever observed in a family with a rhodopsin mutation. In view of this the Ter-349-Glu mutation is worthy of further investigation to determine how the presence of this particular mutant opsin leads to rod photoreceptor degeneration.

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