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Identification of a novel rhodopsin mutation (Met-44-Thr) in a simplex case of retinitis pigmentosa

✍ Scribed by Carlos Reig; Jaume Antich; Esther Gean; Blanca Garcia-Sandoval; Carmen Ramos; Carmen Ayuso; Miguel Carballo

Book ID: 104665043
Publisher: Springer
Year: 1994
Tongue: English
Weight: 523 KB
Volume: 94
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00208284

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✦ Synopsis

Retinitis pigmentosa (RP) is a group of genetically heterogeneous retinal degenerations that can be autosomal dominant (ADRP), autosomal recessive (ARRP), or X-linked. Approximately 30% of ADRP patients show point mutations or small deletions in the rhodopsin gene. However, over 50% of the RP patients are simplex cases (sporadic). Screening for mutations in the rhodopsin gene of 33 patients with simplex RP by denaturing gradient gel electrophoresis (DGGE) was carried out. One patient, with D-type (diffuse) RP and consanguineous parents, showed an altered electrophoretic pattern for the 5' half of exon 1. Direct sequencing revealed a new mutation ATG to ACG in codon 44; this predicts a change of Met-44-Thr in rhodopsin. The position and amino acid substitution suggest that this mutation causes the RP phenotype. Implications for genetic counselling are discussed.

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