The spectrum of GJB2 gene mutations in Algerian families with nonsyndromic hearing loss from Sahara and Kabylie regions

Spectrum and Frequency of the GJB2 Gene Mutations Among Latvian Patients with Prelingual Nonsyndromic Hearing Loss Mutations in the GJB2 gene (connexin 26) are the most common cause of congenital nonsyndromic severe-to-profound hearing loss. Sixty-five hearing impaired probands from Latvia were tested for mutations in the GJB2 gene to determine the percentage of hearing loss attributed to connexin 26 and the types of mutations in this population. A total of 62% of patients tested had GJB2 mutations. Four different mutations in the GJB2 gene were identified in Latvian patients with nonsyndromic sensorineural hearing loss: 35delG, 311-324del14, 235delC and M34T. The most prevalent mutation is 35delG (47% of all probands were homozygous and 8% compound heterozygous). Our findings support the conclusion that the 35delG mutation is the most prevalent GJB2 mutation and that it is the common cause of hereditary nonsyndromic hearing loss in populations of European descent.

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Update of the spectrum of GJB2 gene mutations in 152 Moroccan families with autosomal recessive nonsyndromic hearing loss

European Journal of Medical Genetics ◽

10.1016/j.ejmg.2016.05.002 ◽

2016 ◽

Vol 59 (6-7) ◽

pp. 325-329 ◽

Cited By ~ 12

Author(s):

Amina Bakhchane ◽

Amale Bousfiha ◽

Hicham Charoute ◽

Sara Salime ◽

Mustapha Detsouli ◽

...

Keyword(s):

Hearing Loss ◽

Autosomal Recessive ◽

Gene Mutations ◽

Gjb2 Gene ◽

Nonsyndromic Hearing Loss

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Prevalence of the c.35delG and p.W24X mutations in the GJB2 gene in patients with nonsyndromic hearing loss from North-West Romania

International Journal of Pediatric Otorhinolaryngology ◽

10.1016/j.ijporl.2009.12.015 ◽

2010 ◽

Vol 74 (4) ◽

pp. 351-355 ◽

Cited By ~ 12

Author(s):

C. Lazăr ◽

R. Popp ◽

A. Trifa ◽

C. Mocanu ◽

G. Mihut ◽

...

Keyword(s):

Hearing Loss ◽

Gjb2 Gene ◽

Nonsyndromic Hearing Loss ◽

North West

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Prevalence of GJB2 gene mutation in 330 cochlear implant patients in the Jiangsu province

The Journal of Laryngology & Otology ◽

10.1017/s0022215116008689 ◽

2016 ◽

Vol 130 (10) ◽

pp. 902-906 ◽

Cited By ~ 1

Author(s):

L Shi ◽

J Chen ◽

J Li ◽

X Wei ◽

X Gao

Keyword(s):

Hearing Loss ◽

Cochlear Implant ◽

Gene Mutation ◽

Cochlear Implantation ◽

Gene Mutations ◽

Jiangsu Province ◽

Gjb2 Gene ◽

Novel Mutations ◽

Pathogenic Mutations

AbstractObjective:GJB2 gene mutations are highly prevalent in pre-lingual hearing loss patients from China. Pre-lingual deafness is a sensorineural disorder that can only be treated with cochlear implantation.Method:The prevalence of GJB2 gene mutations was examined in 330 randomly selected patients treated with cochlear implantation.Results:Overall, 276 patients (83.64 per cent) carried variations in the GJB2 gene. Seventeen different genotypes were identified, including 10 confirmed pathogenic mutations (c.235delC, c.299delAT, c.176del16, p.E47X, p.T123N, p.V167M, p.C218Y, p.T86R, p.V63L and p.R184Q), 3 polymorphisms (p.V27I, p.E114 G and p.I203 T) and 2 unidentified mutations (p.V37I and c.571 T > C).Conclusion:A total of 103 patients (31.2 per cent) carried 2 confirmed pathogenic mutations. The frequency of c.235delC was higher than that reported previously in the Jiangsu province. The two novel mutations identified, 69C > G and 501G > A, are likely to be polymorphisms.

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