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Four novel mutations in the RPE65 gene in patients with Leber congenital amaurosis
Author(s) -
Simovich Marcia J.,
Miller Beverly,
Ezzeldin Hany,
Kirkland Bryan T.,
McLeod Genevieve,
Fulmer Chere,
Nathans Jeremy,
Jacobson Samuel G.,
Pittler Steven J.
Publication year - 2001
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.1168
Subject(s) - rpe65 , visual phototransduction , biology , retinitis pigmentosa , genetics , cis trans isomerases , gene , hum , mutation , retinal , genetic enhancement , art , peptidylprolyl isomerase , biochemistry , isomerase , performance art , art history
Leber congenital amaurosis (LCArpar; is a heterogeneous disorder representing the congenital forms of retinitis pigmentosa accounting for about 5% of all retinal dystrophies. The RPE65 gene product is required for regeneration of the visual pigment for phototransduction. Defects in the RPE65 gene have so far been shown to account for ∼10 % of known cases of LCA. Here we describe four additional novel mutations in the RPE65 gene (c.889delA, c.131G>A, c.1249G>C, c.430T>G) and several novel polymorphisms in a large series of LCA patients. Hum Mutat 18:164, 2001. © 2001 Wiley‐Liss, Inc.