Pro-347-Arg mutation of the rhodopsin gene in autosomal dominant retinitis pigmentosa. |
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Authors: | A Gal A Artlich M Ludwig G Niemeyer K Olek E Schwinger A Schinzel |
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Affiliation: | Institut für Humangenetik, Medizinische Universit?t, Lübeck, Federal Republic of Germany. |
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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. |
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