Mutation data of the OTOF gene in deafness

Mutation type*1 Mutation position Length of affected nucleotides Nucleotide sequence after mutation Mutation name Case # Consequence Disease Symptom Hereditary pattern Zygosity Position Onset Progress Ethnic origin Reference
N 2190 1 A Y730X 8 TAT-TAA at ntd 2190 -> Tyr-Term at codon 730 DFNB9, Deafness, non-syndromic, autosomal recessive severe-to-profound hearing loss AR*2 homozygous exon 18, C2B domain prelingual ND Lebanese Yasunaga, S. et al. Nat. Genet. 21, 363 (1999)

*1 Abbreviations are as follows: N, Nonsense.
*2 Abbreviations are as follows: AR, Autosomal Recessive; ND, Not Described.






Last updated 29 March 2000