Severe autosomal recessive retinitis pigmentosa maps to chromosome 1p13.3–p21.2 between D1S2896 and D1S457 but outside ABCA4

Zhang, Qingjiong; Zulfiqar, Fareeha; Xiao, Xueshan; Riazuddin, Saima; Ayyagari, Radha; Sabar, Farooq; Caruso, Raphael; Sieving, Paul A.; Riazuddin, Sheikh; Hejtmancik, J. Fielding

doi:10.1007/s00439-005-0054-4

Cited by 20 publications

(17 citation statements)

References 47 publications

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“…It is distinguished from most forms of cone-rod dystrophy in which visual function at night is spared initially and for which some vision typically persists beyond the third to fourth decade (Evans et al 1995;Gregory-Evans et al 2000;Klevering et al 1999;Small and Gehrs 1996). Like this family, macular degeneration in association with RP has been reported in arRP caused by mutations in such genes as MERTK (McHenry et al 2004), RLBP1 (Burstedt et al 2001), and ABCA4 (Cremers et al 1998;Martinez-Mir et al 1997 as well as in arRP mapped to RP32 (Zhang et al 2005). Based on the clinical phenotype, the retinal dystrophy in this Pakistani family with p.Gln576X mutation is a severe form of retinitis pigmentosa.…”

Section: Discussionmentioning

confidence: 92%

“…This project was approved by the IRBs of the National Eye Institute, Bethesda, MD and the Centre of Excellence in Molecular Biology, Lahore, Pakistan. Genotyping, linkage analysis and sequencing Genotyping and a full genome wide linkage analysis were carried out as previous described (Zhang et al 2005). The retinal disease in the family was analyzed as autosomal recessive trait with full penetrance and with a disease-gene allele frequency of 0.0001.…”

Section: Patient Samples and Pedigreesmentioning

confidence: 99%

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Severe retinitis pigmentosa mapped to 4p15 and associated with a novel mutation in the PROM1 gene

et al. 2007

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Mutation in the PROM1 gene previously has been identified in one family with retinal degeneration for which neither ERG recordings nor detailed information about visual impairment is available. A large family with multiple individuals affected by retinal degeneration was ascertained in the Punjab province of Pakistan. The visual acuity of all affected patients in the family was severely compromised beginning in early childhood. The retinal disease in this family is a severe form of retinitis pigmentosa (RP) accompanied by macular degeneration. Fundus changes advanced with age. Choriocapillaris atrophy and posterior RPE atrophy were obvious allowing visualization of the large choroidal vessels in patients over 40 years of age. Rod and cone responses on ERG recordings were extinguished in patient's teens. A genome-wide scan mapped the disease to a 34.7 cM region of chromosome 4p14-p16 between D4S1599 and D4S405. A maximum lod score of 3.96 with D4S403 and D4S391 is seen at theta = 0. Sequence analysis of PROM1 located in the linkage interval identified a c.1726C>T homozygous transition in exon 15: resulting in p.Gln576X in the translated protein. This mutation is found in a homozygous state in all six affected individuals and was heterozygous in five of the six unaffected family members examined. The mutation was not detected in 192 chromosomes of unrelated control individuals of the same ethnicity and from the same region. This delineates the phenotypic characteristics of retinopathy caused by mutations in PROM1.

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Section: Discussionmentioning

confidence: 92%

Section: Patient Samples and Pedigreesmentioning

confidence: 99%

Severe retinitis pigmentosa mapped to 4p15 and associated with a novel mutation in the PROM1 gene

et al. 2007

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“…In contrast, mutations in the same gene may produce a variety of clinical phenotypes. For example, different mutations in ABCR can cause Stargardt macular degeneration (6), cone-rod dystrophy (89), or recessive RP (90,91). Also, heterozygous mutations in ABCR increase the risk of developing age-related macular degeneration (92).…”

Section: Eye Diseases Associated With Defective Metabolism Of Visual mentioning

confidence: 99%

Diseases Caused by Defects in the Visual Cycle: Retinoids as Potential Therapeutic Agents

Travis

Golczak

Moise

et al. 2007

Annu. Rev. Pharmacol. Toxicol.

370

452

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Absorption of a photon by an opsin pigment causes isomerization of the chromophore from 11-cisretinaldehyde to all-trans-retinaldehyde. Regeneration of visual chromophore following light exposure is dependent on an enzyme pathway called the retinoid or visual cycle. Our understanding of this pathway has been greatly facilitated by the identification of disease-causing mutations in the genes coding for visual cycle enzymes. Defects in nearly every step of this pathway are responsible for human-inherited retinal dystrophies. These retinal dystrophies can be divided into two etiologic groups. One involves the impaired synthesis of visual chromophore. The second involves accumulation of cytotoxic products derived from all-trans-retinaldehyde. Gene therapy has been successfully used in animal models of these diseases to rescue the function of enzymes involved in chromophore regeneration, restoring vision. Dystrophies resulting from impaired chromophore synthesis can also be treated by supplementation with a chromophore analog. Dystrophies resulting from the accumulation of toxic pigments can be treated pharmacologically by inhibiting the visual cycle, or limiting the supply of vitamin A to the eyes. Recent progress in both areas provides hope that multiple inherited retinal diseases will soon be treated by pharmaceutical intervention.

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“…Genotyping for all participating family members was performed using 5Ј-Xuorescently labeled microsatellite markers, as previous described (Zhang et al 2005). After initial exclusion analysis of CMN candidate loci, a genome-wide scan was carried out using panels 1-27 of the ABI PRISM linkage Mapping Set Version 2, which includes 382 markers spaced at intervals of about 10 cM.…”

Section: Genotyping and Linkage Analysismentioning

confidence: 99%

A novel locus for autosomal dominant congenital motor nystagmus mapped to 1q31-q32.2 between D1S2816 and D1S2692

Xiao

Guo

et al. 2011

Hum Genet

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Congenital motor nystagmus (CMN) is characterized by bilateral involuntary ocular oscillation without any other underlying ocular or systemic diseases. An autosomal dominant CMN was identified in a large Chinese family where all patients had nystagmus since infancy. The nystagmus in the family is independent of any known ocular or systemic diseases. After exclusion of known CMN loci, a genome-wide scan was performed by genotyping microsatellite markers at about 10 cM intervals, together with two-point linkage analysis. Exome sequencing was used to screen coding exons of well-annotated genes. Sanger-dideoxy sequencing was used to verify candidate variations inside the linkage interval. Congenital motor nystagmus in this family shows linkage to markers in a 11.39 Mb (12.1 cM) region on chromosome 1q31-q32.2 between D1S2816 and D1S2692. All nine markers in the linkage interval gave positive lod scores, with D1S2655 and D1S2636 yielding lod scores of 5.16 and 5.18, respectively, at θ = 0. No causative mutation in the linkage interval was identified by exome sequencing of gDNA from four patients. A linkage study of additional families and further analysis of candidate genes may ultimately lead to identification of the gene responsible for dominantly inherited CMN.

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Severe autosomal recessive retinitis pigmentosa maps to chromosome 1p13.3–p21.2 between D1S2896 and D1S457 but outside ABCA4

Cited by 20 publications

References 47 publications

Severe retinitis pigmentosa mapped to 4p15 and associated with a novel mutation in the PROM1 gene

Severe retinitis pigmentosa mapped to 4p15 and associated with a novel mutation in the PROM1 gene

Diseases Caused by Defects in the Visual Cycle: Retinoids as Potential Therapeutic Agents

A novel locus for autosomal dominant congenital motor nystagmus mapped to 1q31-q32.2 between D1S2816 and D1S2692

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