Molecular genetics of retinitis pigmentosa in two Romani (Gypsy)families

[摘要] Purpose: To identify the disease-causing mutations in two largeBulgarian Romani (Gypsy) pedigrees: one with autosomal dominantretinitis pigmentosa (adRP) with partial penetrance and the other withsevere X-linked RP (xlRP).Methods: Detailed clinical investigations were undertaken andgenomic DNA was extracted from blood samples. DNA was analyzed by PCRamplification with gene-specific primers and direct genomic sequencing.Results: Analysis of the complete coding sequence of PRPF31 inthe adRP family led to the identification of a new heterozygous splicesite mutation IVS6+1G>T. RPGR mutation screening in affected maleindividuals in the X-linked RP family identified a hemizygousc.ORF15+652_653delAG mutation. Interestingly this mutation was found ina homozygous state in one severely affected female from the family.Conclusions: In this first report of molecular genetic analysis ofretinitis pigmentosa in Romani families, we describe a novel PRPF31mutation and present the first case of a homozygous mutation in theRPGR gene in a female individual.

[学科分类] 生物化学/生物物理