Document Detail

CRB1 mutation spectrum in inherited retinal dystrophies.
MedLine Citation:
PMID:  15459956     Owner:  NLM     Status:  MEDLINE    
Mutations in the Crumbs homologue 1 (CRB1) gene have been reported in patients with a variety of autosomal recessive retinal dystrophies, including retinitis pigmentosa (RP) with preserved paraarteriolar retinal pigment epithelium (PPRPE), RP with Coats-like exudative vasculopathy, early onset RP without PPRPE, and Leber congenital amaurosis (LCA). We extended our investigations of CRB1 in these retinal dystrophies, and identified nine novel CRB1 sequence variants. In addition, we screened patients with "classic" RP and classic Coats disease (without RP), but no pathologic sequence variants were found in the CRB1 gene. In total, 71 different sequence variants have been identified on 184 CRB1 alleles of patients with retinal dystrophies, including amino acid substitutions, frameshift, nonsense, and splice site mutations, in-frame deletions, and large insertions. Recent studies in two animal models, mouse and Drosophila, and in vivo high-resolution microscopy in patients with LCA, have shed light on the role of CRB1 in the pathogenesis of retinal dystrophies and its function in the photoreceptors. In this article, we provide an overview of the currently known CRB1 sequence variants, predict their effect, and propose a genotype-phenotype correlation model for CRB1 mutations.
Anneke I den Hollander; Jason Davis; Saskia D van der Velde-Visser; Marijke N Zonneveld; Chiara O Pierrottet; Robert K Koenekoop; Ulrich Kellner; L Ingeborgh van den Born; John R Heckenlively; Carel B Hoyng; Penny A Handford; Ronald Roepman; Frans P M Cremers
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Review    
Journal Detail:
Title:  Human mutation     Volume:  24     ISSN:  1098-1004     ISO Abbreviation:  Hum. Mutat.     Publication Date:  2004 Nov 
Date Detail:
Created Date:  2004-10-11     Completed Date:  2005-07-29     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  9215429     Medline TA:  Hum Mutat     Country:  United States    
Other Details:
Languages:  eng     Pagination:  355-69     Citation Subset:  IM    
Copyright Information:
Copyright 2004 Wiley-Liss, Inc.
Department of Human Genetics, University Medical Center Nijmegen, Nijmegen, The Netherlands.
Data Bank Information
Bank Name/Acc. No.:
OMIM/204000;  600105;  604210
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MeSH Terms
Amino Acid Sequence
Eye Proteins / chemistry,  genetics*,  metabolism
Membrane Proteins / chemistry,  genetics*,  metabolism
Molecular Sequence Data
Mutation / genetics*
Nerve Tissue Proteins / chemistry,  genetics*,  metabolism
Retinal Diseases / genetics*,  pathology
Reg. No./Substance:
0/CRB1 protein, human; 0/Eye Proteins; 0/Membrane Proteins; 0/Nerve Tissue Proteins

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