Deafness, Nonsyndromic Sensorineural, Mitochondrial
OMIM:500008Mode of inheritance:Mitochondrial inheritance
Disease classification:Diseases of the ear and mastoid process
Mutations
| Gene Symbol | MT-RNR1 |
|---|---|
| Reference transcript | NC_012920.1 |
| DNA Change | m.1555A>G |
| A.A. Change | |
| Exon/Intron | |
| Mutation Type | substitution |
| Reference | Nahili H, Charif M, Boulouiz R, Bounaceur S, Benrahma H, Abidi O, Chafik A, Rouba H, Kandil M, Barakat A.Prevalence of the mitochondrial A 1555G mutation in Moroccan patients with non-syndromic hearing loss. Int J Pediatr Otorhinolaryngol. 2010 Sep;74(9):1071-4. |
| Gene Symbol | PNPT1 |
|---|---|
| Reference transcript | NM_033109.4 |
| DNA Change | c.1424A>G |
| A.A. Change | p.Glu475Gly |
| Exon/Intron | exon 17 |
| Mutation Type | substitution |
| Reference | von Ameln S, Wang G, Boulouiz R, Rutherford MA, Smith GM, Li Y, Pogoda HM, N?rnberg G, Stiller B, Volk AE, Borck G, Hong JS, Goodyear RJ, Abidi O, N?rnberg P, Hofmann K, Richardson GP, Hammerschmidt M, Moser T, Wollnik B, Koehler CM, Teitell MA, Barakat A, Kubisch C.A Mutation in PNPT1, Encoding Mitochondrial-RNA-Import Protein PNPase, Causes Hereditary Hearing Loss. Am J Hum Genet. 2012 Oct 16. pii: S0002-9297(12)00476-4. |