| Phenotype: | Deafness, autosomal recessive 1A |
|---|---|
| Dna Change: | c.139G>T |
| Protein Change: | p.Glu47X |
| Mutation Type: | Substitution |
| Mutation Effect: | Nonsense |
| Location: | exon 2 |
| Transcript: | NM_004004.5 |
| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
|---|---|---|---|---|---|
| Tunisia | NA | Gafsa, Sfax and Sidi Bouzid | 5 families/25 unrelated families | NA | Ben Said M et al., 2012Ben Said M, Dhouib H, BenZina Z, Ghorbel A, Moreno F, Masmoudi S, Ayadi H, Hmani-Aifa M, . Segregation of a new mutation in SLC26A4 and p.E47X mutation in GJB2 within a consanguineous Tunisian family affected with Pendred syndrome.. Int. J. Pediatr. Otorhinolaryngol.. 2012; 76(6):832-6 |
| Phenotype: | Deafness, autosomal recessive 1A |
|---|---|
| Dna Change: | c.35delG |
| Protein Change: | p.Gly12ValfsX2 |
| Mutation Type: | Deletion |
| Mutation Effect: | Frameshift |
| Location: | exon 2 |
| Transcript: | NM_004004.5 |
| Phenotype: | Deafness, autosomal recessive 1A |
|---|---|
| Dna Change: | c.71G>A |
| Protein Change: | p.Trp24X |
| Mutation Type: | Substitution |
| Mutation Effect: | Nonsense |
| Location: | exon 2 |
| Transcript: | NM_004004.5 |
| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
|---|---|---|---|---|---|
| Spain | Gypsy | NA | 79% of the DFNB1 alleles | NA | Alvarez A et al., 2005Alvarez A, del Castillo I, Villamar M, Aguirre LA, González-Neira A, López-Nevot A, Moreno-Pelayo MA, Moreno F, . High prevalence of the W24X mutation in the gene encoding connexin-26 (GJB2) in Spanish Romani (gypsies) with autosomal recessive non-syndromic hearing loss.. Am. J. Med. Genet. A. 2005; 137(3):255-8 |
Abidi O, Boulouiz R, Nahili H, Imken L, Rouba H, Chafik A, Barakat A, The analysis of three markers flanking GJB2 gene suggests a single origin of the most common 35delG mutation in the Moroccan population.Biochem. Biophys. Res. Commun.. 2008; 377(3):971-4
Alvarez A, del Castillo I, Villamar M, Aguirre LA, González-Neira A, López-Nevot A, Moreno-Pelayo MA, Moreno F, High prevalence of the W24X mutation in the gene encoding connexin-26 (GJB2) in Spanish Romani (gypsies) with autosomal recessive non-syndromic hearing loss.Am. J. Med. Genet. A. 2005; 137(3):255-8
Belguith H, Hajji S, Salem N, Charfeddine I, Lahmar I, Amor MB, Ouldim K, Chouery E, Driss N, Drira M, Mégarbané A, Rebai A, Sefiani A, Masmoudi S, Ayadi H, Analysis of GJB2 mutation: evidence for a Mediterranean ancestor for the 35delG mutation.Clin. Genet.. 2005; 68(2):188-9
Ben Said M, Dhouib H, BenZina Z, Ghorbel A, Moreno F, Masmoudi S, Ayadi H, Hmani-Aifa M, Segregation of a new mutation in SLC26A4 and p.E47X mutation in GJB2 within a consanguineous Tunisian family affected with Pendred syndrome.Int. J. Pediatr. Otorhinolaryngol.. 2012; 76(6):832-6
Estivill X, Fortina P, Surrey S, Rabionet R, Melchionda S, D'Agruma L, Mansfield E, Rappaport E, Govea N, Milà M, Zelante L, Gasparini P, Connexin-26 mutations in sporadic and inherited sensorineural deafness.Lancet. 1998; 351(9100):394-8
Gazzaz B, Weil D, Raïs L, Akhyat O, Azeddoug H, Nadifi S, Autosomal recessive and sporadic deafness in Morocco: high frequency of the 35delG GJB2 mutation and absence of the 342-kb GJB6 variant.Hear. Res.. 2005; 210(1):80-4
Kokotas H, Van Laer L, Grigoriadou M, Iliadou V, Economides J, Pomoni S, Pampanos A, Eleftheriades N, Ferekidou E, Korres S, Giannoulia-Karantana A, Van Camp G, Petersen MB, Strong linkage disequilibrium for the frequent GJB2 35delG mutation in the Greek population.Am. J. Med. Genet. A. 2008; 146(22):2879-84
Masmoudi S, Elgaied-Boulila A, Kassab I, Ben Arab S, Blanchard S, Bouzouita JE, Drira M, Kassab A, Hachicha S, Petit C, Ayadi H, Determination of the frequency of connexin26 mutations in inherited sensorineural deafness and carrier rates in the Tunisian population using DGGE.J. Med. Genet.. 2000; 37(11):E39
Mustapha M, Salem N, Delague V, Chouery E, Ghassibeh M, Rai M, Loiselet J, Petit C, Mégarbané A, Autosomal recessive non-syndromic hearing loss in the Lebanese population: prevalence of the 30delG mutation and report of two novel mutations in the connexin 26 (GJB2) gene.J. Med. Genet.. 2001; 38(10):E36
Pampanos A, Economides J, Iliadou V, Neou P, Leotsakos P, Voyiatzis N, Eleftheriades N, Tsakanikos M, Antoniadi T, Hatzaki A, Konstantopoulou I, Yannoukakos D, Gronskov K, Brondum-Nielsen K, Grigoriadou M, Gyftodimou J, Iliades T, Skevas A, Petersen MB, Prevalence of GJB2 mutations in prelingual deafness in the Greek population.Int. J. Pediatr. Otorhinolaryngol.. 2002; 65(2):101-8
Snoeckx RL, Hassan DM, Kamal NM, Van Den Bogaert K, Van Camp G, Mutation analysis of the GJB2 (connexin 26) gene in Egypt.Hum. Mutat.. 2005; 26(1):60-1
Tekin M, Akar N, Cin S, Blanton SH, Xia XJ, Liu XZ, Nance WE, Pandya A, Connexin 26 (GJB2) mutations in the Turkish population: implications for the origin and high frequency of the 35delG mutation in Caucasians.Hum. Genet.. 2001; 108(5):385-9
Uyguner O, Emiroglu M, Uzumcu A, Hafiz G, Ghanbari A, Baserer N, Yuksel-Apak M, Wollnik B, Frequencies of gap- and tight-junction mutations in Turkish families with autosomal-recessive non-syndromic hearing loss.Clin. Genet.. 2003; 64(1):65-9