Mutation data of the DIAPH1/DFNA1 gene in deafness

Mutation type*1 Mutation position Length of affected nucleotides Nucleotide sequence after mutation Mutation name Case # Consequence Disease Symptom Hereditary Pattern Zygousity Position Onset Progress Ethnic Origin Reference
S 3589+1 1 T 3589+1G->T 1 ntd 3589+1G-T -> splice doner site change after codon 1196. 4bp insertion in mRNA and frameshift, encoding 21 aberrant amino acid DFNA1, deafness, autosomal dominant 1 low frequency deafness, bilateral deafness involved all frewuencies, sensorial cochleosaccular dysplasia AD*2 hetelozygous intron 17, splice doner site about 10y progressive (by age 30 to profound) Costa Rica Lynch, E. D. et al. SCIENCE 278, 1315 (1997)

*1 Abbreviations are as follows: S, Splicing.
*2 Abbreviations are as follows: AD, Autosomal Dominant.







Last updated 29 March 2000