Genes and Mutations in Hearing Impairment - Genetics of Auditory Disorders - page 32

TABLE 2.3. Examples of mutations in the DNA sequence in NSHL
Gene Locus Type of mutation Nucleotide change Mutation Reference

KCNQ4 DFNA2 Deletion/frameshift 13 bp 211del13 a Coucke et al. 1999

GJB3 DFNA2 Transition/missense GagÆAag b Q183K c Xia et al. 1998

DFNA2 Transition/nonsense CgaÆTga R180X d Xia et al. 1998

TECTA DFNA8 Transition/missense tAtÆtGt Y1870C Verhoeven et al. 1998

DFNA12 Transition/missense CtcÆTtc L1820F Verhoeven et al. 1998

Transition/missense gGtÆgAt G1824D

DFNA12 Transversion/missense tGcÆtCc C1619S Alloisio et al. 1999

DFNB12 Transition/donor splice site GÆA Truncation/stop Mustapha et al. 1999

COCH DFNA9 Transversion/missense gTaÆgGa V66G Robertson et al. 1998

DFNA9 Transition/missense gGaÆgAa G88E Robertson et al. 1998

DFNA9 Transition/missense TggÆCgg W117R Robertson et al. 1998

DFNA9 Transition/missense CcaÆTca P51S de Kok et al. 1999

OTOF DFNB9 Transversion/nonsense aTgÆaAg Y730X Yasunaga et al. 1999

MYO15 DFNB3 Transversion/missense AtcÆTtc I892F Wang et al. 1998b

Transversion/missense AacÆTac N890Y Wang et al. 1998b

Transversion/nonsense AaaÆTaa K1300X Wang et al. 1998b

a Nomenclature for deletion (i.e., 211del13 is a 13-bp deletion at nucleotide 211).
b Nucleotides in lower case remain the same; nucleotide in upper case is mutated.
c Nomenclature for conversion of one amino acid to another (i.e. Q183K is glutamine to lysine at amino acid number 183 of the protein).
d X = stop codon.