title: Molecular genetics of retinitis pigmentosa in two Romani (Gypsy) families.
abstract: 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.
authors.affiliation: Institute of Ophthalmology, University College London, London, UK.
authors.forename: Christina F
authors.initials: CF
authors.lastname: Chakarova
authors.forename: Sylvia
authors.initials: S
authors.lastname: Cherninkova
authors.forename: Ivailo
authors.initials: I
authors.lastname: Tournev
authors.forename: Naushin
authors.initials: N
authors.lastname: Waseem
authors.forename: Radka
authors.initials: R
authors.lastname: Kaneva
authors.forename: Albena
authors.initials: A
authors.lastname: Jordanova
authors.forename: Brotati K
authors.initials: BK
authors.lastname: Veraitch
authors.forename: Bhavdip
authors.initials: B
authors.lastname: Gill
authors.forename: Tracy
authors.initials: T
authors.lastname: Colclough
authors.forename: Anastasia
authors.initials: A
authors.lastname: Nakova
authors.forename: Alexander
authors.initials: A
authors.lastname: Oscar
authors.forename: Violeta
authors.initials: V
authors.lastname: Mihaylova
authors.forename: Amelia
authors.initials: A
authors.lastname: Nikolova-Hill
authors.forename: Alan F
authors.initials: AF
authors.lastname: Wright
authors.forename: Graeme C M
authors.initials: GC
authors.lastname: Black
authors.forename: Simon
authors.initials: S
authors.lastname: Ramsden
authors.forename: Ivo
authors.initials: I
authors.lastname: Kremensky
authors.forename: Shomi S
authors.initials: SS
authors.lastname: Bhattacharya
mesh_terms: 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
chemical_list: D005136:Eye Proteins; C454222:PRPF31 protein, human; C099929:RPGR protein, human; D006147:Guanine; D013941:Thymine