Connexin 26 gene mutation and autosomal recessive deafness

The Lancet ◽  
1998 ◽  
Vol 351 (9100) ◽  
pp. 383-384 ◽  
Author(s):  
William Reardon
Keyword(s):  
Gene Mutation ◽  
Autosomal Recessive ◽  
Connexin 26

A novel connexin 26 gene mutation associated with features of the keratitis-ichthyosis-deafness syndrome and the follicular occlusion triad

2004 ◽  
Vol 51 (3) ◽  
pp. 377-382 ◽  
Author(s):  
Jay R. Montgomery ◽  
Thomas W. White ◽  
Bryan L. Martin ◽  
Maria L. Turner ◽  
Steven M. Holland
Keyword(s):  
Gene Mutation ◽  
Connexin 26

scholarly journals High prevalence of theW24X mutation in the gene encoding connexin-26 (GJB2) in Spanish Romani (gypsies) with autosomal recessive non-syndromic hearing loss

2005 ◽  
Vol 137A (3) ◽  
pp. 255-258 ◽  
Author(s):  
Araceli Álvarez ◽  
Ignacio del Castillo ◽  
Manuela Villamar ◽  
Luis A. Aguirre ◽  
Anna González-Neira ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Autosomal Recessive ◽  
Connexin 26 ◽  
Gene Encoding ◽  
High Prevalence ◽  
Syndromic Hearing Loss

scholarly journals Complement Factor H Gene Mutation Associated with Autosomal Recessive Atypical Hemolytic Uremic Syndrome

2000 ◽  
Vol 66 (5) ◽  
pp. 1721-1722 ◽  
Author(s):  
Mark R.H. Buddles ◽  
Rosemary L. Donne ◽  
Anna Richards ◽  
Judith Goodship ◽  
Timothy H.J. Goodship
Keyword(s):  
Hemolytic Uremic Syndrome ◽  
Gene Mutation ◽  
Autosomal Recessive ◽  
Atypical Hemolytic Uremic Syndrome ◽  
Factor H ◽  
Complement Factor H ◽  
Complement Factor ◽  
H Gene ◽  
Uremic Syndrome

scholarly journals Keratitis-Ichthyosis-Deafness Syndrome, Atypical Connexin GJB2 Gene Mutation, and Peripheral T-Cell Lymphoma: More Than a Random Association?

2011 ◽  
Vol 2011 ◽  
pp. 1-3
Author(s):  
Claudio Fozza ◽  
Fausto Poddie ◽  
Salvatore Contini ◽  
Antonio Galleu ◽  
Francesca Cottoni ◽  
...  
Keyword(s):  
T Cell ◽  
Gene Mutation ◽  
Cell Lymphoma ◽  
Skin Lesions ◽  
T Cell Lymphoma ◽  
Congenital Disorder ◽  
Gjb2 Gene ◽  
Connexin 26 ◽  
Peripheral T Cell Lymphoma ◽  
Rare Congenital Disorder

Keratitis-ichthyosis-deafness (KID) syndrome is a rare congenital disorder characterized by skin lesions, neurosensorial hypoacusia, and keratitis, usually due to the mutation involving the connexin 26 gene. We report on a KID patient who showed the atypical mutation and developed a T-cell lymphoma so far never described in this group of patients.

scholarly journals KID Syndrome: Report of a Scandinavian Patient with Connexin‐26 Gene Mutation

2005 ◽  
Vol 85 (2) ◽  
pp. 152-155 ◽  
Author(s):  
Anette Bygum ◽  
Regina Betz ◽  
Knud Kragballe ◽  
Torben Steiniche ◽  
Nils Peeters ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Connexin 26 ◽  
Syndrome Report

Connexin 26 and 30 mutations in paediatric patients with congenital, non-syndromic hearing loss treated with cochlear implantation in Mediterranean Turkey

2012 ◽  
Vol 127 (1) ◽  
pp. 33-37 ◽  
Author(s):  
Ö Tarkan ◽  
P Sari ◽  
O Demirhan ◽  
M Kiroğlu ◽  
Ü Tuncer ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Cochlear Implantation ◽  
Autosomal Recessive ◽  
Connexin 26 ◽  
Enzyme Linked Immunosorbent Assay ◽  
Paediatric Patients ◽  
Study Population ◽  
Connexin 30 ◽  
Syndromic Hearing Loss ◽  
35Delg Mutation

AbstractObjective:Mutations in the genes for connexin 26 (GJB2) and connexin 30 (GJB6) play an important role in autosomal recessive, non-syndromic hearing loss. This study aimed to detect the 35delG and 167delT mutations of theGJB2gene and the del(GJB6-D13S1830) mutation of theGJB6gene in paediatric patients diagnosed with congenital, non-syndromic hearing loss and treated with cochlear implantation in Mediterranean Turkey.Materials and method:We included 94 children diagnosed with congenital, non-syndromic hearing loss and treated with cochlear implantation. Blood samples were collected, DNA extracted and an enzyme-linked immunosorbent assay performed to enable molecular diagnosis of mutations.Results:Of the 94 children analysed, the 35delG mutation was detected in 12 (12.7 per cent): 10 (83.3 per cent) were homozygous and 2 (16.7 per cent) heterozygous mutant. The 167delT and del(GJB6-D13S1830) mutations were not detected.Conclusion:The GJB2-35delG mutation is a major cause of congenital, non-syndromic hearing loss in this study population.

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