Publications (2)2.2 Total impact
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Conference Proceeding: A novel locus for autosomal dominant cone-rod dystrophy in a family of Gypsy origin
59th Annual meeting of American Society of Human Genetics, Honolulu, Hawai; 10/2009 -
Article: Molecular genetics of retinitis pigmentosa in two Romani (Gypsy) families.
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ABSTRACT: To identify the disease-causing mutations in two large Bulgarian Romani (Gypsy) pedigrees: one with autosomal dominant retinitis pigmentosa (adRP) with partial penetrance and the other with severe X-linked RP (xlRP). Detailed clinical investigations were undertaken and genomic DNA was extracted from blood samples. DNA was analyzed by PCR amplification with gene-specific primers and direct genomic sequencing. Analysis of the complete coding sequence of PRPF31 in the adRP family led to the identification of a new heterozygous splice site mutation IVS6+1G>T. RPGR mutation screening in affected male individuals in the X-linked RP family identified a hemizygous c.ORF15+652_653delAG mutation. Interestingly this mutation was found in a homozygous state in one severely affected female from the family. In this first report of molecular genetic analysis of retinitis pigmentosa in Romani families, we describe a novel PRPF31 mutation and present the first case of a homozygous mutation in the RPGR gene in a female individual.Molecular vision 01/2006; 12:909-14. · 2.20 Impact Factor
