Simpson-Golabi-Behmel syndrome, type 1 (SGBS)
OMIM:312870Mode of inheritance:X-linked recessive
Disease classification:Congenital malformations and chromosomal abnormalities
Mutations
| Gene Symbol | GPC3 |
|---|---|
| Reference transcript | NM_001164617.1 |
| DNA Change | c.271C>T |
| A.A. Change | p.GLn91X |
| Exon/Intron | exon 2 |
| Mutation Type | substitution |
| Reference | Ratbi I, Elalaoui SC, Moizard MP, Raynaud M, Sefiani A.Novel nonsense mutation of GPC3 gene in a patient with Simpson-Golabi-Behmel syndrome. Turk J Pediatr. 2010 Sep-Oct;52(5):525-8. |