GJB2

Gene name: gap junction protein, beta 2, 26kDa
OMIM ID: 121011
Chromosome location: 13q12.11

Mutations

Disease/Phenotype	Deafness, autosomal recessive 1A
Reference transcript	NM_004004.5
DNA Change	c.109G >A
A.A. Change	p.Val37Ile
Exon/Intron	exon 2
Mutation Type	substitution
Reference	Abidi O, Boulouiz R, Nahili H, Bakhouch K, Wakrim L, Rouba H, Chafik A, Hassar M, Barakat A.Carrier frequencies of mutations/polymorphisms in the connexin 26 gene (GJB2) in the Moroccan population. Genet Test. 2008 Dec;12(4):569-74.

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Disease/Phenotype	Deafness, autosomal recessive 1A
Reference transcript	NM_004004.5
DNA Change	c.139G>T
A.A. Change	p.Glu47X
Exon/Intron	exon 2
Mutation Type	substitution
Reference	Abidi O, Boulouiz R, Nahili H, Ridal M, Alami MN, Tlili A, Rouba H, Masmoudi S, Chafik A, Hassar M, Barakat AGJB2 (connexin 26) gene mutations in Moroccan patients with autosomal recessive non-syndromic hearing loss and carrier frequency of the common GJB2-35delG mutation. Int J Pediatr Otorhinolaryngol. 2007 Aug;71(8):1239-45.

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Disease/Phenotype	Deafness, autosomal recessive 1A
Reference transcript	NM_004004.5
DNA Change	c.30_35delGGGGGG
A.A. Change	p.Gly11_Gly12del
Exon/Intron	exon 2
Mutation Type	deletion
Reference	Lench NJ, Markham AF, Mueller RF, Kelsell DP, Smith RJ, Willems PJ, Schatteman I, Capon H, Van De Heyning PJ, Van Camp G.A Moroccan family with autosomal recessive sensorineural hearing loss caused by a mutation in the gap junction protein gene connexin 26 (GJB2). J Med Genet. 1998 Feb;35(2):151-2.

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Disease/Phenotype	Deafness, autosomal recessive 1A
Reference transcript	NM_004004.5
DNA Change	c.35delG
A.A. Change	p.Gly12ValfsX2
Exon/Intron	exon 3
Mutation Type	deletion
Reference	Abidi O, Boulouiz R, Nahili H, Bakhouch K, Wakrim L, Rouba H, Chafik A, Hassar M, Barakat A.Carrier frequencies of mutations/polymorphisms in the connexin 26 gene (GJB2) in the Moroccan population. Genet Test. 2008 Dec;12(4):569-74.

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