Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation
Research output: Contribution to journal › Journal article › Research › peer-review
We found mutations in the gene PQBP1 in 5 of 29 families with nonsyndromic (MRX) and syndromic (MRXS) forms of X-linked mental retardation (XLMR). Clinical features in affected males include mental retardation, microcephaly, short stature, spastic paraplegia and midline defects. PQBP1 has previously been implicated in the pathogenesis of polyglutamine expansion diseases. Our findings link this gene to XLMR and shed more light on the pathogenesis of this common disorder.
| Original language | English |
|---|---|
| Journal | Nature Genetics |
| Volume | 35 |
| Issue number | 4 |
| Pages (from-to) | 313-5 |
| Number of pages | 3 |
| ISSN | 1061-4036 |
| DOIs | |
| Publication status | Published - Dec 2003 |
- Carrier Proteins, Female, Genetic Linkage, Humans, Male, Mental Retardation, X-Linked, Molecular Sequence Data, Mutation, Nuclear Proteins, Oligopeptides, Pedigree, Syndrome
Research areas
ID: 138433783