Pro-347-Arg mutation of the rhodopsin gene in autosomal dominant retinitis pigmentosa.
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Gal A, Artlich A, Ludwig M, Niemeyer G, Olek K, Schwinger E, Schinzel A
Pro-347-Arg mutation of the rhodopsin gene in autosomal dominant retinitis pigmentosa.
Genomics. 1991 Oct;11(2):468-70.
- PubMed ID
- 1840561 [ View in PubMed]
- Abstract
It has been shown recently that autosomal dominant retinitis pigmentosa may be caused by point mutations of the rhodopsin gene in a portion of families. In this communication, a large six-generation family with autosomal dominant RP is described. Molecular analysis by PCR amplification followed by restriction digestion or heteroduplex analysis suggested a point mutation in codon 347, in which two different mutations (Pro-347-Ser and Pro-347-Leu) have already been reported. Direct sequencing of the patients' DNA revealed a previously undescribed CCG----CGG transversion in codon 347 predicting a Pro----Arg substitution. Ophthalmological data of the patients are summarized and compared to those of patients with other mutations in the rhodopsin gene.