ESPN
Gene name: espinOMIM ID: 606351
Chromosome location: 1p36.31
Mutations
| Disease/Phenotype | Deafness, autosomal recessive 36 |
|---|---|
| Reference transcript | NM_031475.2 |
| DNA Change | c.1757insG |
| A.A. Change | p.C585fs71X |
| Exon/Intron | exon 8 |
| Mutation Type | insertion |
| Reference | Boulouiz R, Li Y, Soualhine H, Abidi O, Chafik A, N?rnberg G, Becker C, N?rnberg P, Kubisch C, Wollnik B, Barakat A.A novel mutation in the Espin gene causes autosomal recessive nonsyndromic hearing loss but no apparent vestibular dysfunction in a Moroccan family. Am J Med Genet A. 2008 Dec 1;146A(23):3086-9. |