Autosomal recessive retinitis pigmentosa in Spain: evaluation of four genes and two loci involved in the disease

Clinical Genetics
M BayésRoser Gonzàlez-Duarte

Abstract

Autosomal recessive retinitis pigmentosa (ARRP) is a genetically heterogeneous form of retinal degeneration. The genes for the beta-subunit of rod phosphodiesterase (PDEB), rhodopsin (RHO), peripherin/RDS (RDS) and the rod outer segment membrane protein 1 (ROM1), as well as loci at 6p and 1q, have previously been reported as the cause of ARRP. In order to determine whether they are responsible for the disease in Spanish pedigrees, linkage and homozygosity studies using markers at these loci were carried out on 47 Spanish ARRP families. SSCP analysis was performed to search for mutations in the genes cosegregating with the disease in particular pedigrees. Three homozygous mutations in the PDEB gene were found, thus accounting for 6% of the cases. No other disease-causing mutation was observed in the other genes analysed, nor was significant evidence found for the involvement of the loci at 6p or 1q. On the basis of these data, it is unlikely that these genes and loci account for a considerable proportion of ARRP cases.

References

May 1, 1992·Human Molecular Genetics·S A TaylorJ F Gusella
Dec 25, 1991·Nucleic Acids Research·G J FarrarP Humphries
Oct 15, 1991·Proceedings of the National Academy of Sciences of the United States of America·T P DryjaE L Berson
Aug 1, 1991·Proceedings of the National Academy of Sciences of the United States of America·C H SungJ Nathans
Oct 25, 1991·Nucleic Acids Research·R Kumar-SinghP Humphries
May 15, 1988·American Journal of Ophthalmology·J R HeckenlivelyJ J Oversier
Feb 11, 1988·Nucleic Acids Research·S A MillerH F Polesky
Oct 24, 1995·Proceedings of the National Academy of Sciences of the United States of America·T P DryjaK W Yau
Jun 1, 1994·Nature Genetics·G GyapayJ Weissenbach
Apr 11, 1995·Proceedings of the National Academy of Sciences of the United States of America·M E McLaughlinT P Dryja
Jun 1, 1993·Trends in Biotechnology·J Prosser
Nov 1, 1993·Human Molecular Genetics·R A BascomR R McInnes
Sep 1, 1994·Nature Genetics·G KumaramanickavelA Gal
Jun 1, 1993·Human Molecular Genetics·B WeberM R Hayden
Apr 1, 1993·Human Molecular Genetics·R A BascomR R McInnes
Jan 1, 1995·Human Molecular Genetics·T P Dryja, T Li
Mar 1, 1996·Journal of Medical Genetics·E TarttelinC Inglehearn

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Citations

Feb 7, 1998·Current Opinion in Neurobiology·D B Farber, M Danciger
Dec 19, 2003·American Journal of Human Genetics·Miquel TusonRoser Gonzàlez-Duarte
Nov 27, 2004·Clinica Chimica Acta; International Journal of Clinical Chemistry·D Y WangC P Pang

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