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

Mental retardation, X-linked 55

OMIM:309500
Mode of inheritance:X-linked recessive
Disease classification:Mental and behavioural disorders


Mutations

Gene SymbolPQBP1
Reference transcriptNM_005710.2
DNA Changec.459_462delAGAG
A.A. Changep.Arg153SerfsX40
Exon/Intronexon 4
Mutation Typedeletion
ReferenceKalscheuer VM, Freude K, Musante L, Jensen LR, Yntema HG, G?cz J, Sefiani A, Hoffmann K, Moser B, Haas S, Gurok U, Haesler S, Aranda B, Nshedjan A, et al.Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation.
Nat Genet. 2003 Dec;35(4):313-5.