Exclusion of four candidate genes, KHDRBS2, PTP4A1, KIAA1411 and OGFRL1, as causative of autosomal recessive retinitis pigmentosa.
To identify the disease gene in 6 Spanish families with autosomal recessive retinitis pigmentosa linked to the RP25 locus, mutation screening of 4 candidate genes, KHDRBS2, PTP4A1, KIAA1411 and OGFRL1, was undertaken based on their expression or functional relevance to the retina. Twenty-six single nucleotide polymorphisms were identified, of which 14 were novel. Even though no pathological mutations were detected, these genes however remain as good candidates for other retinal degenerations mapping to the same chromosomal region.
Abd El-Aziz
Mai M
MM
Department of Molecular Genetics, Institute of Ophthalmology, London, UK. m.saad@ucl.ac.uk
Patel
Reshma J
RJ
El-Ashry
Mohamed F
MF
Barragan
Isabel
I
Marcos
Irene
I
Borrego
Salud
S
Antiñolo
Guillermo
G
Bhattacharya
Shomi S
SS
D018797:Cell Cycle Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis; D005136:Eye Proteins / Q000235:genetics*; D005808:Genes, Recessive; D008040:Genetic Linkage; D006801:Humans; D017874:Immediate-Early Proteins / Q000235:genetics*; D008565:Membrane Proteins; D009363:Neoplasm Proteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D017027:Protein Tyrosine Phosphatases / Q000235:genetics*; D016601:RNA-Binding Proteins / Q000235:genetics*; D012174:Retinitis Pigmentosa / Q000235:genetics*
D018797:Cell Cycle Proteins; D005136:Eye Proteins; D017874:Immediate-Early Proteins; C485572:KHDRBS2 protein, human; D008565:Membrane Proteins; D009363:Neoplasm Proteins; D016601:RNA-Binding Proteins; C490198:PTP4A1 protein, human; D017027:Protein Tyrosine Phosphatases