Mental retardation, X-linked 55
OMIM:309500Mode of inheritance:X-linked recessive
Disease classification:Mental and behavioural disorders
Mutations
| Gene Symbol | PQBP1 |
|---|---|
| Reference transcript | NM_005710.2 |
| DNA Change | c.459_462delAGAG |
| A.A. Change | p.Arg153SerfsX40 |
| Exon/Intron | exon 4 |
| Mutation Type | deletion |
| Reference | Kalscheuer 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. |