Mutation data of the TECTA gene in deafness

Mutation type*1 Mutation position Length of affected nucleotides Nucleotide sequence after mutation Mutation name Case # Consequence Disease Symptom Hereditary Pattern*2 Zygousity Mutation Position Onset Progress Ethnic Origin Author Memorization
M 5609 1 G Y1870C 1 TAT-TGT at ntd 5609 -> Tyr-Cys at codon 1870 DFNA8, deafness, autosomal dominant 8 moderate-to-severe hearing deficit (60-80 dB) involved all frequencies. AD hetelozygous exon18, zona pellucida domain prelingual non-progressive Austrian Verhoeven,K. et al. Nat.Genet. 19, 60 (1998)  
M 5458 1 T L1820F 1 CTC-TTC at ntd 5458 -> Leu-Phe at codon 1820 DFNA12, deafness, autosomal dominant 12 mild-to-moderate severity. 20-80 dBHL. mild frequencies. AD hetelozygous exon17, zona pellucida domain prelingual or early childhood non-progressive Belgian Verhoeven,K. et al. Nat.Genet. 19, 60 (1998) 18 afected members of DFNA12 family have both mutations (L1820F and G1824D)
M 5471 1 A G1824D 1 GGT-GAT at ntd 5471 -> Gly-Asp at codon 1824 DFNA12, deafness, autosomal dominant 12 mild-to-moderate severity. 20-80 dBHL. mild frequencies. AD hetelozygous exon17, zona pellucida domain prelingual or early childhood non-progressive Belgian Verhoeven,K. et al. Nat.Genet. 19, 60 (1998) 18 afected members of DFNA12 family have both mutations (L1820F and G1824D)
M 4856 1 C C1619S 1 TGC-TCC at ntd 4856 -> Cys-Ser at codon 1619. Abolishe the first of the vinical cystein (1619Cys-Gly-Leu- 1622Cys) present in the D4 von Willebrand factor (vWf) type D repeat DFNA8/12, deafness, autosomal dominant mild-to-moderate severity. 20-80 dBHL. High frequencies. AD hetelozygous exon14, zonadhesin-like domain prelingual or early childhood progressive French Alloisio,N. et al. Eur.J.Hum.Genet. 7,255 (1999)  
S 2941+1 1 A 2941+1G->A 2 ntd 2941+1G-A -> splice donor site (GT) change of the intron 9, predicting trancate protein of 971 amino acid. DFNB21, deafness, autosomal recessive 21 moderate severe-profaund. 70-110 dB. all frequencies. AR homolozygous trancated protein. Stop codon in: D2 vWf type D repeat prelingual ND*3 Lebanase Mustapha,M. et al. Hum.Mol.Genet. 8,409 (1999)  

*1 Abbreviations are as follows: M, Missense; S, Splicing.
*2 Abbreviations are as follows: AD, Autosomal Dominant; AR, Autosomal Recessive.
*3 Abbreviations is as follows: ND, Not Described.







Last updated 1 Oct 1999