Molecular genetics of retinitis pigmentosa in two Romani (Gypsy) families.
Mol Vis
; 12: 909-14, 2006 Aug 11.
Article
in En
| MEDLINE
| ID: mdl-16917484
ABSTRACT
PURPOSE:
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).METHODS:
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.RESULTS:
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.CONCLUSIONS:
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.
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Database:
MEDLINE
Main subject:
Roma
/
Retinitis Pigmentosa
/
Eye Proteins
/
Molecular Biology
/
Mutation
Limits:
Adolescent
/
Adult
/
Female
/
Humans
/
Male
/
Middle aged
Language:
En
Year:
2006
Type:
Article