A Novel Locus for Autosomal Recessive Retinitis Pigmentosa in a Consanguineous Pakistani Family Maps to Chromosome 2p
نویسندگان
چکیده
منابع مشابه
A new autosomal recessive retinitis pigmentosa locus maps on chromosome 2q31-q33.
Autosomal recessive retinitis pigmentosa (ARRP) is a genetically heterogeneous disease. To date, mutations in four members of the phototransduction cascade have been implicated in ARRP. Additionally, linkage of the disease to three loci on 1p, 1q, and 6p has been described. However, the majority of cases are still uncharacterised. We have performed linkage analysis in a large nuclear ARRP famil...
متن کاملAutosomal recessive retinitis pigmentosa locus RP28 maps between D2S1337 and D2S286 on chromosome 2p11-p15 in an Indian family.
Retinitis pigmentosa (RP) is a group of clinically and genetically heterogeneous disorders characterised by night blindness, constriction of visual field, and dystrophic changes of the retina. Previous genetic studies have shown extensive allelic and non-allelic genetic heterogeneity of RP. Here we describe an Indian family with multiple consanguineous marriages and a total of four patients wit...
متن کاملA novel locus for autosomal dominant nuclear cataract mapped to chromosome 2p12 in a Pakistani family.
PURPOSE To map the disease locus in a four-generation, consanguineous Pakistani family affected by autosomal dominant congenital nuclear cataract (adNCat). All affected individuals had early onset of bilateral nuclear cataract. METHODS Genomic DNA from family members was typed for alleles at more than 300 known polymorphic genetic markers by polymerase chain reaction. The lod scores were calc...
متن کاملSLC7A14 linked to autosomal recessive retinitis pigmentosa
Retinitis pigmentosa (RP) is characterized by degeneration of the retinal photoreceptors and is the leading cause of inherited blindness worldwide. Although few genes are known to cause autosomal recessive RP (arRP), a large proportion of disease-causing genes remain to be revealed. Here we report the identification of SLC7A14, a potential cationic transporter, as a novel gene linked to arRP. U...
متن کاملIdentification of novel mutations in Pakistani families with autosomal recessive retinitis pigmentosa.
R etinitis pigmentosa (RP) is a major cause of inherited blindness and accounts for 20% of children attending blind schools in Pakistan. Based on the European and American populations, the prevalence is estimated at 1 in 4000 individuals but has been reported to be as high as 1 in 372 in rural areas of South India. Eight loci and 44 genes have been associated with RP (RetNet, http://www.sph.uth...
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ژورنال
عنوان ژورنال: American Journal of Ophthalmology
سال: 2010
ISSN: 0002-9394
DOI: 10.1016/j.ajo.2009.12.034