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Mutations in LCA5 are an uncommon cause of Leber congenital amaurosis (LCA) type II
Author(s) -
Gerber Sylvie,
Hanein Sylvain,
Perrault Isabelle,
Delphin Nathalie,
Aboussair Nisrine,
Leowski Corinne,
Dufier JeanLouis,
Roche Olivier,
Munnich Arnold,
Kaplan Josseline,
Rozet JeanMichel
Publication year - 2007
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.9513
Subject(s) - biology , genetics , phenotype , dystrophy , blindness , gene , amaurosis , mutation , medicine , neuroscience , optometry
Leber congenital amaurosis (LCA) is the earliest and most severe form of inherited retinal dystrophy responsible for blindness or severe visual impairment at birth or within the first months of life. Up to date, ten LCA genes have been identified. Three of them account for ca. 43% of families and are responsible for a congenital severe stationary cone‐rod dystrophy (Type I, 60% of LCA) while the seven remaining genes account for 32% of patients and are responsible for a progressive yet severe rod‐cone dystrophy (Type II, 40% of LCA ). Recently, mutations in LCA5, encoding the ciliary protein lebercilin, were reported to be a rare cause of leber congenital amaurosis. The purpose of this study was to evaluate the involvement of this novel gene and to look for genotype‐phenotype correlations. Here we report the identification of three novel LCA5 mutations (3/3 homozygous) in three families confirming the modest implication of this gene in our series (3/179; 1.7%). Besides, we suggest that the phenotype of these patients affected with a particularly severe form of LCA type II may represent a continuum with LCA type I. © 2007 Wiley‐Liss, Inc.