Deafness, autosomal recessive 1A
OMIM:220290Mode of inheritance:Autosomal recessive
Disease classification:Diseases of the ear and mastoid process
Mutations
| Gene Symbol | GJB2 |
|---|---|
| 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. |
| Gene Symbol | GJB2 |
|---|---|
| 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. |
| Gene Symbol | GJB2 |
|---|---|
| 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. |
| Gene Symbol | GJB2 |
|---|---|
| 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. |
| Gene Symbol | GJB3 |
|---|---|
| Reference transcript | NM_024009.2 |
| DNA Change | c.357C>T |
| A.A. Change | |
| Exon/Intron | exon 2 |
| Mutation Type | substitution |
| Reference | Nahili H, Ridal M, Boulouiz R, Abidi O, Imken L, Rouba H, Alami MN, Chafik A, Hassar M, Barakat A.Absence of GJB3 and GJB6 mutations in Moroccan familial and sporadic patients with autosomal recessive non-syndromic deafness. Int J Pediatr Otorhinolaryngol. 2008 Nov;72(11):1633-6. |