Mutation data of the GJB3 gene in deafness

Mutation type*1 Mutation position Length of affected nucleotides Nucleotide sequence after mutation Mutation name Case # Consequence Disease Mutation position Clinical feature Audiogram Onset Hereditary pattern Ethnic origin Zygosity Reference
M 35 1 A G12D 1 GGT-GAT at ntd 35 -> Gly-Asp at codon 12 Erythrokeratodermia variabilis Cytoplasmic amino terminal (NT) transient figurate red patches and localozed or generalized hyperkeratosis Normal At birth or early childhood AD*2 Caucasian heterozygous Richard, G. et al. Nat. Genet. 20, 366 (1998)
M 34 1 C G12R 1 GGT-CGT at ntd 34 -> Gly-Arg at codon 12 Erythrokeratodermia variabilis Cytoplasmic amino terminal (NT) transient figurate red patches and localozed or generalized hyperkeratosis Normal At birth or early childhood AD Caucasian (Swiss) heterozygous Richard, G. et al. Nat. Genet. 20, 366 (1998)
M 256 1 A C86S 1 TGC-AGC at ntd 256 -> Cys-Ser at codon 86 Erythrokeratodermia variabilis 2nd TM domain (M2) transient figurate red patches and localozed or generalized hyperkeratosis Normal At birth or early childhood AD Caucasian (USA/origin: Dutch) heterozygous Richard, G. et al. Nat. Genet. 20, 366 (1998)
M 256 1 A C86S 1 TGC-AGC at ntd 256 -> Cys-Ser at codon 86 Erythrokeratodermia variabilis 2nd TM domain (M2) transient figurate red patches and localozed or generalized hyperkeratosis, sporadic Normal At birth or early childhood AD Caucasian heterozygous Richard, G. et al. Nat. Genet. 20, 366 (1998)
N 538 1 T R180X 1 CGA-TGA at ntd 538 -> Arg-Ter at codon 180 Deafness, non-syndromic, autosomal dominant (DFNA2) lacking the 4th TM domain(M4) and the 3rd intracellular domain(CT) at the carboxy terminus progressive, bilateral hearing impairment Mild-moderate, 20-55 dBHL, middle-high frequencies, gently sloping shape 20-40 Years AD Chinese (province of China) heterozygous Xia, J. H. et al. Nat. Genet. 20, 370 (1998)
M 547 1 A E183K 1 GAG-AAG at ntd 547 -> Glu-Lys at codon 183 Deafness, non-syndromic, autosomal dominant (DFNA2) 2nd extracellular domain (E2) bilateral hearing impairment Mild-moderate, 20-55 dBHL, middle-high frequencies, gently sloping shape 20-40 Years AD Chinese (Zhejiang province) heterozygous Xia, J. H. et al. Nat. Genet. 20, 370 (1998)
D 421 3   421delATT 2 in-flame 3 bp del (421-423delATT) in one allele -> loss of as isoleucine residue at codon 141. Deafness, non-syndromic, autosomal (recessive/dominant ?) 3rd conserved alpha-helical TM domain (M3) bilateral sensprineural hearing loss Moderate-profound, 45-85 dBHL, all frequencies, flat shape Pre-lingual or early childhood recessive(?) Chinese compound heterozugous Liu, XZ. et al. Hum. Mol. Genet. 9, 63 (2000)
M 421 1 G I114V 2 ATT-GTT at ntd 421 in the other allele -> Ile->Val at codon 141 Deafness, non-syndromic, autosomal (recessive/dominant ?) 3rd conserved alpha-helical TM domain (M3) bilateral sensprineural hearing loss Moderate-profound, 45-85 dBHL, all frequencies, flat shape Pre-lingual or early childhood recessive(?) Chinese compound heterozugous Liu, XZ. et al. Hum. Mol. Genet. 9, 63 (2000)

*1 Abbreviations are as follows: M, Missense; N, Nonsense; D, Deletion.
*2 Abbreviations are as follows: AD, Autosomal Dominant.







Last updated 28 March 2000