Mendelian Diseases
Multifactorial Diseases
Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Leber congenital amaurosis 5

OMIM:604537
Mode of inheritance:Autosomal recessive
Disease classification:Diseases of the eye and adnexa


Mutations

Gene SymbolLCA5
Reference transcriptNM_181714.3
DNA Changec.1476dupA
A.A. Changep.Pro493ThrfsX2
Exon/Intronexon 9
Mutation Typeduplication
Referenceden Hollander AI, Koenekoop RK, Mohamed MD, Arts HH, Boldt K, Towns KV, Sedmak T, Beer M, Nagel-Wolfrum K, McKibbin M, Dharmaraj S, Lopez I, Ivings L, Williams GA, Springell K, et al,Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis.
Nat Genet. 2007 Jul;39(7):889-95.
Gene SymbolLCA5
Reference transcriptNM_181714.3
DNA Changec.1186G>T
A.A. Changep.Glu396Stop
Exon/Intronexon 8
Mutation Typesubstitution
ReferenceGerber S, Hanein S, Perrault I, Delphin N, Aboussair N, Leowski C, Dufier JL, Roche O, Munnich A, Kaplan J, Rozet JM.Mutations in LCA5 are an uncommon cause of Leber congenital amaurosis (LCA) type II.
Hum Mutat. 2007 Dec;28(12):1245.