A locus for autosomal dominant posterior polar cataract on chromosome 1p

Human Molecular Genetics
A IonidesAlan Shiels

Abstract

Autosomal dominant congenital cataract is a clinically and genetically heterogeneous lens disease. Here we report the linkage of a locus for autosomal dominant posterior polar cataract (CPP) to the distal short arm of chromosome 1. To map the CPP locus we performed molecular genetic linkage analysis using microsatellite markers in a three-generation pedigree. After exclusion of 13 known loci and candidate lens genes for autosomal dominant cataract, we obtained significantly positive LOD scores for markers D1S508 (Z = 3.14, theta = 0) and D1S468 (Z = 2.71, theta = 0). Multipoint analysis gave a maximum LOD score of 3.48 (theta = 0.07) between markers D1S508 and D1S468. From haplotype data, however, CPP probably lies in the telomeric interval D1S2845-1pter, which includes the locus for the clinically distinct Volkman congenital cataract (CCV). This study provides the first evidence for genetic heterogeneity of autosomal dominant posterior polar cataract for which a locus had been linked previously to chromosome 16q.

Citations

Sep 2, 2011·Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Für Klinische Und Experimentelle Ophthalmologie·Shan OuyangPing Liu
Jun 4, 2005·Journal of Human Genetics·Linghan GaoSongbin Fu
Mar 5, 2004·Survey of Ophthalmology·Ian M MacDonaldMaria A Musarella
Apr 11, 2003·Survey of Ophthalmology·Luis AmayaDora Lengyel
May 14, 1999·Trends in Genetics : TIG·P J FrancisS Bhattacharya
Jan 29, 2003·Journal of Cataract and Refractive Surgery·Ken HayashiFumihiko Hayashi
Feb 5, 1999·Progress in Retinal and Eye Research·J Graw
Jan 25, 2005·The British Journal of Ophthalmology·P K F AddisonA T Moore
Jun 25, 1999·The British Journal of Ophthalmology·A IonidesA Moore
Jun 27, 2002·The British Journal of Ophthalmology·M G WirthD A Mackey
Jul 7, 2000·Journal of Medical Genetics·P J FrancisA T Moore
Aug 4, 2009·PLoS Genetics·Gyungah JunBingcheng Wang
Sep 29, 2004·Proceedings of the National Academy of Sciences of the United States of America·Sudha K IyengarRobert C Elston
Nov 8, 2005·Ophthalmic Genetics·Simone FinziOlof Sundin
May 31, 2012·Science China. Life Sciences·Alexander I SonRenPing Zhou
Jul 14, 2010·European Journal of Medical Genetics·Bingyu Huang, Weigong He
Apr 10, 2010·Canadian Journal of Ophthalmology. Journal Canadien D'ophtalmologie·Ahmad Salahuddin
Nov 24, 2007·Seminars in Cell & Developmental Biology·J Fielding Hejtmancik
May 5, 2006·Clinical & Experimental Ophthalmology·David A Mackey
Aug 19, 2007·American Journal of Human Genetics·Alan ShielsPhyllis I Hanson
Apr 17, 1999·American Journal of Human Genetics·D MackayS Bhattacharya
Apr 28, 2004·Survey of Ophthalmology·M Ashwin ReddyAnthony T Moore
Aug 6, 2003·American Journal of Medical Genetics. Part a·Cathy L BarrCatherine Tsilfidis
Mar 29, 2014·Ophthalmic Genetics·Dragana CelojevicMadeleine Zetterberg
Jan 1, 2012·Saudi Journal of Ophthalmology : Official Journal of the Saudi Ophthalmological Society·Hatem Kalantan
Aug 27, 1998·American Journal of Human Genetics·E HéonC Tsifildis
Jun 1, 1997·American Journal of Human Genetics·D MackayA Shiels
Dec 7, 2017·Indian Journal of Ophthalmology·Abhay R Vasavada, Vaishali A Vasavada
Jan 27, 2004·Current Opinion in Ophthalmology·Peter J Francis, Anthony T Moore
Oct 19, 2017·Ophthalmic Genetics·Vanita BerryMichel Michaelides
Jul 1, 1999·Current Opinion in Ophthalmology·M B Hamill, D D Koch
Mar 28, 2003·Ophthalmic Genetics·Jochen Graw, Jana Löster
May 20, 1998·Ophthalmic Genetics·I M MacDonaldM A Musarella
Feb 13, 2021·Journal of Cataract and Refractive Surgery·Jeewan S TitiyalSaima Ahsan Mazumdar
Sep 4, 2021·Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus·Carla DanesePaolo Lanzetta

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