title: CRB1 mutations in inherited retinal dystrophies.
abstract: Mutations in the CRB1 gene are associated with variable phenotypes of severe retinal dystrophies, ranging from leber congenital amaurosis (LCA) to rod-cone dystrophy, also called retinitis pigmentosa (RP). Moreover, retinal dystrophies resulting from CRB1 mutations may be accompanied by specific fundus features: preservation of the para-arteriolar retinal pigment epithelium (PPRPE) and retinal telangiectasia with exudation (also referred to as Coats-like vasculopathy). In this publication, we report seven novel mutations and classify over 150 reported CRB1 sequence variants that were found in more that 240 patients. The data from previous reports were used to analyze a potential correlation between CRB1 variants and the clinical features of respective patients. This meta-analysis suggests that the differential phenotype of patients with CRB1 mutations is due to additional modifying factors rather than particular mutant allele combination.
authors: INSERM, U968, Paris, France.
authors: Kinga
authors: K
authors: Bujakowska
authors: Isabelle
authors: I
authors: Audo
authors: Saddek
authors: S
authors: Mohand-Saïd
authors: Marie-Elise
authors: ME
authors: Lancelot
authors: Aline
authors: A
authors: Antonio
authors: Aurore
authors: A
authors: Germain
authors: Thierry
authors: T
authors: Léveillard
authors: Mélanie
authors: M
authors: Letexier
authors: Jean-Paul
authors: JP
authors: Saraiva
authors: Christine
authors: C
authors: Lonjou
authors: Wassila
authors: W
authors: Carpentier
authors: José-Alain
authors: JA
authors: Sahel
authors: Shomi S
authors: SS
authors: Bhattacharya
authors: Christina
authors: C
authors: Zeitz
mesh_terms: D005136:Eye Proteins / Q000235:genetics*; D056726:Genetic Association Studies; D005838:Genotype; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010641:Phenotype; D015995:Prevalence; D058499:Retinal Dystrophies / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*
chemical_list: C448939:CRB1 protein, human; D005136:Eye Proteins; D008565:Membrane Proteins; D009419:Nerve Tissue Proteins