A novel locus (RP33) for autosomal dominant retinitis pigmentosa mapping to chromosomal region 2cen-q12.1.

Human Genetics
Chen ZhaoCatharina Larsson

Abstract

Retinitis pigmentosa (RP) is a heterogeneous group of progressive degenerative disorders of the retina with a strong genetic component. Here, we report the clinical and genetic findings in a Chinese family in which autosomal dominant RP (adRP) was inherited by 13 affected members in four generations. Using a genome-wide linkage screening approach, a novel disease locus (RP33) was assigned to the long arm of chromosome 2. A maximum multi-point LOD score of 4.69 was reached at marker D2S2222 in 2q11.2. Meiotic recombination events in affected members placed RP33 in a 15.5 cM region between D2S329 and D2S2229. From meiotic recombinations in two unaffected members RP33 was further refined to a 4.8 cM (9.5 Mb) interval flanked by D2S2159 and D2S1343 in chromosomal region 2cen-q12.1. No disease-associated mutations were detected in the candidate genes SEMA4C, CNGA3 or HNK1ST from within the region. MERTK, a known disease gene for autosomal recessive RP located close to RP33 was similarly excluded. Clinically, the family presented relatively late onset of night blindness, gradually decreased visual acuity, progressive loss of peripheral visual field and typical RP fundus changes in the mid-periphery of the retina. In conclusion, a nov...Continue Reading

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Citations

Feb 14, 2007·Archives of Ophthalmology·Stephen P DaigerLori S Sullivan
Jan 15, 2014·Human Molecular Genetics·Xue ChenChen Zhao
Jun 1, 2007·Progress in Neurobiology·Fanny MannGeneviève Rougon
Jun 30, 2015·Birth Defects Research. Part A, Clinical and Molecular Teratology·Brett DemlElena V Semina
Jul 3, 2015·Journal of Ophthalmology·Yuan LiuChen Zhao
Jul 28, 2016·PLoS Pathogens·Nicolas TremblayDaniel Lamarre
Jan 27, 2017·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Xue ChenChen Zhao
Jul 2, 2019·Investigative Ophthalmology & Visual Science·Christina Gerth-KahlertWolfgang Berger
Apr 14, 2016·The Journal of Biological Chemistry·Sarah Ledoux, Christine Guthrie
Sep 23, 2018·Investigative Ophthalmology & Visual Science·Xue ChenChen Zhao
Feb 6, 2020·Molecular Therapy : the Journal of the American Society of Gene Therapy·Xue ChenQinghuai Liu

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