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Prevalence ofmutations causingretinitis pigmentosaand other inheritedretinopathies Melanie M. SohockiStephen P. DaigerSara J. Bowne2000 год

Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies
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Аннотация: Inherited retinopathies are a genetically and phenotypically heterogeneous group of diseases affecting approximately one in 2000 individuals worldwide. For the past 10 years, the Laboratory for Molecular Diagnosis of Inherited Eye Diseases (LMDIED) at the University of Texas-Houston Health Science Center has screened subjects ascertained in the United States and Canada for mutations in genes causing dominant and recessive autosomal retinopathies. A combination of single strand conformational analysis (SSCA) and direct sequencing of five genes (rhodopsin, peripherin/RDS, RP1, CRX, and AIPL1) identified the disease-causing mutation in approximately one-third of subjects with autosomal dominant retinitis pigmentosa (adRP) or with autosomal dominant cone-rod dystrophy (adCORD). In addition, the causative mutation was identified in 15% of subjects with Leber congenital amaurosis (LCA). Overall, we report identification of the causative mutation in 105 of 506 (21%) of unrelated subjects (probands) tested; we report five previously unreported mutations in rhodopsin, two in peripherin/RDS, and one previously unreported mutation in the cone-rod homeobox gene, CRX. Based on this large survey, the prevalence of disease-causing mutations in each of these genes within specific disease categories is estimated. These data are useful in estimating the frequency of specific mutations and in selecting individuals and families for mutation-specific studies. Hum Mutat 17:42–51, 2001. © 2001 Wiley-Liss, Inc.
Год издания: 2000
Авторы: Melanie M. Sohocki, Stephen P. Daiger, Sara J. Bowne, Joseph A. Rodriquez, Hope Northrup, John R. Heckenlively, David G. Birch, Helen A. Mintz-Hittner, Richard S. Ruiz, Richard A. Lewis, David A. Saperstein, Lori S. Sullivan
Издательство: Wiley
Источник: Human Mutation
Ключевые слова: Retinal Development and Disorders, Photoreceptor and optogenetics research, Retinal Diseases and Treatments
Другие ссылки: Human Mutation (HTML)
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Europe PMC (PubMed Central) (HTML)
PubMed Central (HTML)
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