Molecular genetics of retinitis pigmentosa in two Romani (Gypsy) families.
OBJECTIVE
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.
Chakarova
Christina F
CF
Institute of Ophthalmology, University College London, London, UK.
Cherninkova
Sylvia
S
Tournev
Ivailo
I
Waseem
Naushin
N
Kaneva
Radka
R
Jordanova
Albena
A
Veraitch
Brotati K
BK
Gill
Bhavdip
B
Colclough
Tracy
T
Nakova
Anastasia
A
Oscar
Alexander
A
Mihaylova
Violeta
V
Nikolova-Hill
Amelia
A
Wright
Alan F
AF
Black
Graeme C M
GC
Ramsden
Simon
S
Kremensky
Ivo
I
Bhattacharya
Shomi S
SS
D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D041321:Chromosomes, Human, X; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D006147:Guanine; D006720:Homozygote; D006801:Humans; D007438:Introns; D008297:Male; D008875:Middle Aged; D008967:Molecular Biology; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D019683:Penetrance; D012174:Retinitis Pigmentosa / Q000235:genetics*; D006178:Romani People / Q000235:genetics*; D013941:Thymine
D005136:Eye Proteins; C454222:PRPF31 protein, human; C099929:RPGR protein, human; D006147:Guanine; D013941:Thymine