Deafness, autosomal recessive 79
OMIM:613307Mode of inheritance:Autosomal recessive
Disease classification:Diseases of the ear and mastoid process
Mutations
| Gene Symbol | TPRN |
|---|---|
| Reference transcript | NM_001128228.2 |
| DNA Change | c.42_52del |
| A.A. Change | p.Gly15AlafsX150 |
| Exon/Intron | exon 1 |
| Mutation Type | deletion |
| Reference | Li Y, Pohl E, Boulouiz R, Schraders M, N?rnberg G, Charif M, Admiraal RJ, von Ameln S, Baessmann I, Kandil M, Veltman JA, N?rnberg P, Kubisch C, Barakat A, Kremer H, Wollnik B.Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss. Am J Hum Genet. 2010 Mar 12;86(3):479-84. |