Homozygous and heterozygous Gly-188-Arg mutation of the rhodopsin gene in a family with autosomal dominant retinitis pigmentosa

Author： Reig Carlos Trujillo M. José Martinez-Gimeno Maria Garcia-Sandoval Blanca Calvo M. Teresa Ayuso Carmen Carballo Miguel

Publisher： Informa Healthcare

ISSN： 1381-6810

Source： Ophthalmic Genetics, Vol.21, Iss.2, 2000-06, pp. : 79-87

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Abstract

Autosomal dominant retinitis pigmentosa (adRP) may be caused by point mutations in the rhodopsin gene in up to 20% of Spanish families. Most of the rhodopsin mutations causing adRP have been reported in the heterozygous state. We describe a patient with adRP who is homozygous for a missense mutation at codon 188 in the second intradiscal domain of rhodopsin. All her sons are heterozygous for the mutation and show an RP phenotype suggesting complete penetrance for this mutation. The homozygous carrier of the mutation Gly-188-Arg in the rhodopsin gene showed a later subjective onset of symptoms than the heterozygotes, suggesting that the photoreceptor degeneration induced by the mutation is not dramatically influenced by mutant allele dosage.