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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Genetic analysis of FAM46A in Spanish families with autosomal recessive retinitis pigmentosa: Characterisation of novel VNTRs
Annals of Human Genetics, Volume 72, No. 1, Year 2008
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Description
Retinitis pigmentosa (RP) is a group of retinal dystrophies characterised primarily by rod photoreceptor cell degeneration. Exhibiting great clinical and genetic heterogeneity, RP be inherited as an autosomal dominant (ad) and recessive (ar), X-linked (xl) and digenic disorder. RP25, a locus for arRP, was mapped to chromosome 6p12.1-q14.1 where several retinal dystrophy loci are located. A gene expressed in the retina, FAM46A, mapped within the RP25 locus, and computational data revealed its involvement in retinal signalling pathways. Therefore, we chose to perform molecular evaluation of this gene as a good candidate in arRP families linked to the RP25 interval. A comprehensive bioinformatic and retinal tissue expression characterisation of FAM46A was performed, together with mutation screening of seven RP25 families. Herein we present 4 novel sequence variants, of which one is a novel deletion within a low complexity region close to the initiation codon of FAM46A. Furthermore, we have characterised for the first time a coding tandem variation in the Caucasian population. This study reports on bioinformatic and molecular data for the FAM46A gene that may give a wider insight into the putative function of this gene and its pathologic relevance to RP25 and other retinal diseases mapping within the 6q chromosomal interval. © 2007 The Authors Journal compilation © 2007 University College London.
Authors & Co-Authors
Barragán, Isabel
Spain, Sevilla
Hospital Universitario Virgen Del Rocío
Spain, Madrid
Centro de Investigación Biomédica en Red de Enfermedades Raras
Borrego, Salud
Spain, Sevilla
Hospital Universitario Virgen Del Rocío
Spain, Madrid
Centro de Investigación Biomédica en Red de Enfermedades Raras
Abd el-Aziz, Mai M.
United Kingdom, London
Ucl Institute of Ophthalmology
Egypt, Tanta
Tanta University Hospitals
El-Ashry, Mohamed Farouk
United Kingdom, London
Ucl Institute of Ophthalmology
Egypt, Tanta
Tanta University Hospitals
Abu Safieh, Leen
United Kingdom, London
Ucl Institute of Ophthalmology
Bhattacharya, Shomi Shanker
United Kingdom, London
Ucl Institute of Ophthalmology
Antiñolo, Guillermo
Spain, Sevilla
Hospital Universitario Virgen Del Rocío
Spain, Madrid
Centro de Investigación Biomédica en Red de Enfermedades Raras
Statistics
Citations: 35
Authors: 7
Affiliations: 4
Identifiers
Doi:
10.1111/j.1469-1809.2007.00393.x
e-ISSN:
14691809
Research Areas
Cancer
Disability
Genetics And Genomics
Health System And Policy
Study Design
Cross Sectional Study