Connexin 26 missense mutation resulting in syndromic hearing loss with palmoplantar keratoderma

2020 ◽  
Vol 59 (12) ◽  
Author(s):  
Mun W. Lam ◽  
David Veitch ◽  
Pick N. Woo
Keyword(s):  
Hearing Loss ◽  
Missense Mutation ◽  
Connexin 26 ◽  
Palmoplantar Keratoderma ◽  
Syndromic Hearing Loss

A novel dominant missense mutation - D179N - in the GJB2 gene (Connexin 26) associated with non-syndromic hearing loss

2003 ◽  
Vol 63 (6) ◽  
pp. 516-521 ◽  
Author(s):  
P Primignani ◽  
P Castorina ◽  
F Sironi ◽  
C Curcio ◽  
U Ambrosetti ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Missense Mutation ◽  
Gjb2 Gene ◽  
Connexin 26 ◽  
Syndromic Hearing Loss

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 Connexin 26 Gene Mutations in Non-Syndromic Hearing Loss Among Kuwaiti Patients

2014 ◽  
Vol 23 (1) ◽  
pp. 74-79 ◽  
Author(s):  
Khalid Al-Sebeih ◽  
Marium Al-Kandari ◽  
Sadika A. Al-Awadi ◽  
Fatma F. Hegazy ◽  
Ghada A. Al-Khamees ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Gene Mutations ◽  
Connexin 26 ◽  
Syndromic Hearing Loss

scholarly journals Post-lingual non-syndromic hearing loss phenotype: a novel homozygous missense mutation in MITF

2019 ◽  
Author(s):  
Athar Khalil ◽  
Samer Bou Karroum ◽  
Rana Barake ◽  
Gabriel Dunya ◽  
Samer Abou-Rizk ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Exome Sequencing ◽  
Missense Mutation ◽  
The Novel ◽  
Single Nucleotide Variants ◽  
Single Nucleotide ◽  
Whole Exome ◽  
Genetic Hearing Loss ◽  
Syndromic Hearing Loss ◽  
And Function

Abstract Background Hearing loss (HL) represents the most common congenital sensory impairment with an incidence of 1-5 per 1000 live births. Non-syndromic hearing loss (NSHL) is an isolated finding that is not part of any other disorder accounting for 70% of all genetic hearing loss cases. Methods In the current study, we report a multifactorial genetic mode of inheritance in a NSHL consanguineous family using exome sequencing technology. We evaluated the possible effects of the single nucleotide variants (SNVs) detected in our patients using in silico methods. Results Two bi-allelic SNVs were detected in the affected patients; a MYO15A (. p.V485A) variant, and a novel MITF (p.P338L) variant. Along with these homozygous mutations, we detected two heterozygous variants in well described hearing loss genes (MYO7A and MYH14). The novel p. Pro338Leu missense mutation on the MITF protein was predicted to change the protein structure and function. Conclusion The novel MITF variant is the first bi-allelic SNV in this gene to be associated with an autosomal recessive non-syndromic HL case with a post-lingual onset. Our findings highlight the importance of whole exome sequencing for a comprehensive assessment of the genetic heterogeneity of HL.

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.

Connexin 26 (GJB2) Mutations Associated with Non-Syndromic Hearing Loss (NSHL)

2018 ◽  
Vol 85 (12) ◽  
pp. 1061-1066 ◽  
Author(s):  
Shivani Mishra ◽  
Himani Pandey ◽  
Priyanka Srivastava ◽  
Kausik Mandal ◽  
Shubha R. Phadke
Keyword(s):  
Hearing Loss ◽  
Connexin 26 ◽  
Syndromic Hearing Loss ◽  
Gjb2 Mutations
Sign in / Sign up

Export Citation Format

Share Document