Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Deafness, autosomal recessive 1A

OMIM:220290
Mode of inheritance:Autosomal recessive
Disease classification:Diseases of the ear and mastoid process


Mutations

Gene SymbolGJB2
Reference transcriptNM_004004.5
DNA Changec.35delG
A.A. Changep.Gly12ValfsX2
Exon/Intronexon 3
Mutation Typedeletion
ReferenceAbidi 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 SymbolGJB2
Reference transcriptNM_004004.5
DNA Changec.109G >A
A.A. Changep.Val37Ile
Exon/Intronexon 2
Mutation Typesubstitution
ReferenceAbidi 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 SymbolGJB2
Reference transcriptNM_004004.5
DNA Changec.139G>T
A.A. Changep.Glu47X
Exon/Intronexon 2
Mutation Typesubstitution
ReferenceAbidi 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 SymbolGJB2
Reference transcriptNM_004004.5
DNA Changec.30_35delGGGGGG
A.A. Changep.Gly11_Gly12del
Exon/Intronexon 2
Mutation Typedeletion
ReferenceLench 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 SymbolGJB3
Reference transcriptNM_024009.2
DNA Changec.357C>T
A.A. Change
Exon/Intronexon 2
Mutation Typesubstitution
ReferenceNahili 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.