Deafness, autosomal recessive 59
OMIM:610220Mode of inheritance:Autosomal recessive
Disease classification:Diseases of the ear and mastoid process
Mutations
| Gene Symbol | DFNB59 |
|---|---|
| Reference transcript | NM_001042702.3 |
| DNA Change | c.113_114insT |
| A.A. Change | p.Lys41GlufsX8 |
| Exon/Intron | exon 2 |
| Mutation Type | insertion |
| Reference | Ebermann I, Walger M, Scholl HP, Charbel Issa P, L?ke C, N?rnberg G, Lang-Roth R, Becker C, N?rnberg P, Bolz HJ.Truncating mutation of the DFNB59 gene causes cochlear hearing impairment and central vestibular dysfunction. Hum Mutat. 2007 Jun;28(6):571-7. |