Connexin 26 (GJB2) gene mutations linked with autosomal
recessive non-syndromic sensor neural hearing
loss in the Iraqi population
الباحث الأول:
Anwar Madlool Al-janabi
الباحثين الآخرين:
Habeeb Shuhaib Ahmmed , Salih Mahdi Al-Khafaji
المجلة:
JOURNAL of MEDICINE and LIFE
تاريخ النشر:
None
مختصر البحث:
Deafness is a total or partial hearing loss that may appear at any age and with
different degrees of severity. Approximately 50% of hearing loss have a genetic
origin, and among them, non-syndromic sensorineural deafness represents about
70% of t…
Deafness is a total or partial hearing loss that may appear at any age and with
different degrees of severity. Approximately 50% of hearing loss have a genetic
origin, and among them, non-syndromic sensorineural deafness represents about
70% of the cases. From them, 80% correspond to autosomal recessive inheritance
deafness. Autosomal recessive deafness was not studied enough at the molecular
level in Iraq. This study aimed to verify the frequency of three GJB2 mutations
in non-syndromic sensorineural deafness in the Iraqi population. The current
case-control study was conducted from January 2018 to January 2020. The study
included 95 deafness patients (55 males and 40 females) and 110 healthy control
group. Age and sex were matched between the two groups. In order to detect
c.35delG, 235delC, and 167delT mutations in the GJB2 gene, we employed the
PCR-RFLP technique. The c.35delG was the main frequent mutation encountered
with the GJB2 gene among patients with autosomal recessive non-syndromic
sensorineural hearing loss. Among them, 35 (36.8%) were homozygous, 40 (42.1%)
were heterozygous, and 20 (21.1%) were wild genotypes. The second-degree mutation
in the GJB2 gene was c.235delC mutation, which from the 95 deaf patients,
there were 20 (21.1%) with homozygous, 33 (34.7%) heterozygous, and 42 (44.2%)
wild genotypes. None of the 95 deaf patients showed the c.167delT mutation,
and no mutations appeared in the control group. Our data concluded that the
GJB2 c.35delG and c.235delC gene mutations were the main cause of autosomal
recessive non-syndromic sensorineural hearing loss in the Iraqi deaf population.
