Comprehensive SNP-chip for retinitis pigmentosa-Leber congenital amaurosis diagnosis: New mutations and detection of mutational founder effects

European Journal of Human Genetics

Volumn 18, Issue 1, 2010, Pages 118-124

  Pomares, Esther ^a,b   Riera, Marina ^a,b   Permanyer, Jon ^a,b   Méndez, Pilar ^a,b   Castro Navarro, Joaquín ^c   Andrés Gutiérrez, Ángeles ^d   Marfany, Gemma ^a,b   Gonzlez Duarte, Roser ^a,b  

^a UNIVERSITY OF BARCELONA   (Spain)

^b INSTITUTO DE SALUD CARLOS III   (Spain)

^c HOSPITAL UNIVERSITARIO CENTRAL DE ASTURIAS   (Spain)

^d HOSPITAL SAN AGUSTÍN   (Spain)

Author keywords

Co segregation; founder effect; LCA; mutation; RP; SNP genotyping

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; CONTROLLED STUDY; DNA MICROARRAY; FEMALE; FOUNDER EFFECT; GENE MUTATION; GENETIC ASSOCIATION; GENETIC CONSERVATION; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE; GENOTYPING TECHNIQUE; GEOGRAPHIC DISTRIBUTION; HAPLOTYPE; HIGH THROUGHPUT SEQUENCING; HUMAN; HUMAN TISSUE; LEBER CONGENITAL AMAUROSIS; MOLECULAR DIAGNOSIS; MULTIGENE FAMILY; PEDIGREE; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; SEGREGATION ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; DOMINANT GENE; EXON; EYE FUNDUS; FAMILY; GENETICS; MALE; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PENETRANCE; RECESSIVE GENE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SPAIN;

EYE PROTEIN; PRPF31 PROTEIN, HUMAN;

BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; EXONS; EYE PROTEINS; FAMILY; FEMALE; FOUNDER EFFECT; FUNDUS OCULI; GENES, DOMINANT; GENES, RECESSIVE; HAPLOTYPES; HUMANS; LEBER CONGENITAL AMAUROSIS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PEDIGREE; PENETRANCE; POLYMORPHISM, SINGLE NUCLEOTIDE; RETINITIS PIGMENTOSA; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SPAIN;

EID: 77449102994     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2009.114     Document Type: Article

References (15)

1. Rivolta C, Sharon D, DeAngelis MM, Dryja TP: Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns. Hum Mol Genet 2002; 11: 1219-1227.
2. Hims MM, Diager SP, Inglehearn CF: Retinitis pigmentosa: genes, proteins and prospects. Dev Ophthalmol 2003; 37: 109-125.
3. Pomares E, Marfany G, Brion MJ, Carracedo A, Gonzalez-Duarte R: Novel highthroughput SNP genotyping cosegregation analysis for genetic diagnosis of autosomal recessive retinitis pigmentosa and Leber congenital amaurosis. Hum Mutat 2007; 28: 511-516. (Pubitemid 46668610)
4. Dryja TP, McGee TL, Reichel E et al: A point mutation of the rhodopsin gene in one form of retinitis pigmentosa. Nature 1990; 343: 364-366.
5. Farrar GJ, McWilliam P, Bradley DG et al: Autosomal dominant retinitis pigmentosa: Linkage to rhodopsin and evidence for genetic heterogeneity. Genomics 1990; 8: 35-40. (Pubitemid 20302274)
6. Rosenfeld PJ, Cowley GS, McGee TL, Sandberg MA, Berson EL, Dryja TP: A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa. Nat Genet 1992; 1: 209-213.
7. Bessant DA, Payne AM, Mitton KP et al: A mutation in NRL is associated with autosomal dominant retinitis pigmentosa. Nat Genet 1999; 21: 355-356.
8. Nishiguchi KM, Friedman JS, Sandberg MA, Swaroop A, Berson EL, Dryja TP: Recessive NRL mutations in patients with clumped pigmentary retinal degeneration and relative preservation of blue cone function. Proc Natl Acad Sci USA 2004; 101: 17819-17824. (Pubitemid 40051970)
9. Celesia GG, Bodis-Wollner I, Chatrian GE, Harding GF, Sokol S, Spekreijse H: Recommended standards for electroretinograms and visual evoked potentials. Report of an IFCN committee. Electroencephalogr Clin Neurophysiol 1993; 87: 421-436. (Pubitemid 24012339)
10. Vithana EN, Abu-Safieh L, Pelosini L et al: Expression of PRPF31 mRNA in patients with autosomal dominant retinitis pigmentosa: a molecular clue for incomplete penetrance? Invest Ophthalmol Vis Sci 2003; 44: 4204-4209. (Pubitemid 37186252)
11. Sato M, Nakazawa M, Usui T, Tanimoto N, Abe H, Ohguro H: Mutations in the gene coding for guanylate cyclase-activating protein 2 (GUCA1B gene) in patients with autosomal dominant retinal dystrophies. Graefes Arch Clin Exp Ophthalmol 2005; 243: 235-242. (Pubitemid 40521097)
12. Rivolta C, McGee TL, Rio Frio T, Jensen RV, Berson EL, Dryja TP: Variation in retinitis pigmentosa-11 (PRPF31 or RP11) gene expression between symptomatic and asymptomatic patients with dominant RP11 mutations. Hum Mutat 2006; 27: 644-653.
13. Rio Frio T, Wade NM, Ransijn A, Berson EL, Beckmann JS, Rivolta C: Premature termination codons in PRPF31 cause retinitis pigmentosa via haploinsufficiency due to nonsense-mediated mRNA decay. J Clin Invest 2008; 118: 1519-1531. (Pubitemid 351500445)
14. Abu-Safieh L, Vithana EN, Mantel I et al: A large deletion in the adRP gene PRPF31: evidence that haploinsufficiency is the cause of disease. Mol Vis 2006; 12: 384-388.
15. Rio Frio T, Civic N, Ransijn A, Beckmann JS, Rivolta C: Two trans-acting eQTLs modulate the penetrance of PRPF31 mutations. Hum Mol Genet 2008; 17: 3154-3165.