СОНСГОЛЫН ХҮНД ХЭЛБЭРИЙН БУУРАЛТТАЙ ХҮНД CONNEXIN 26 ГЕНИЙН МУТАЦИЙГ ТОДОРХОЙЛСОН ТӨСӨЛТ АЖЛЫН ЗАРИМ ҮР ДҮН
- Author:
Jargalkhuu E
1
;
Chen-Chi Wu
2
;
Delgermaa B
3
;
Zaya M
4
;
Myagmarnaran N
4
;
Chuluun-Erdene Ts
4
;
Khongotzul G
5
Author Information
1. Mongolian National University of Medical Sciences
2. National University of Taivan
3. National Center For Maternal and Child Health
4. EMJJ hospital
5. Mongolian National University of Medical Science
- Publication Type:Journal Article
- Keywords:
GJB2;
SLC26A4;
Mitochondria 12S rRNA;
Genetic epidemiology;
Idiopathic sensorineural hearing impairment
- From:Innovation
2018;12(3):10-14
- CountryMongolia
- Language:Mongolian
-
Abstract:
BACKGROUND. Sensorineural hearing impairment (SNHI) is the most common inherited
sensory defect, affecting about 3 per 1000 children. More than 50% of these patients
have a genetic cause (i.e. hereditary hearing impairment; HHI). Mutations in certain
genes were noted to be extraordinarily popular in the deaf patients across different
populations, making molecular screening feasible for these common deafness genes.
One of the most important characteristics that we have learned concerning hereditary
hearing loss is that common deafness genes and their mutations are usually different
according to the ethnic background. As demonstrated in our previous studies performed
in Taiwanese patients, the mutation spectrums of common deafness genes, such as the
GJB2 gene and the SLC26A4 gene, are different from those in the Caucasian or even
other Asian populations. These findings further underscore the indispensability of the
collection of local data in terms of genetic counseling.
In the collaborative project, we have successfully established a cohort of >100 hearingimpaired
families, and clarified the genetic epidemiology of deafness in the Mongolian
population. We identified several special deafness mutations such as GJB2 c.23+1G>A,
c.559_604dup, and SLC26A4 c.919-2A>G, and our results revealed that Mongolian
patients demonstrate a unique genetic profile in deafness as compared to other
East Asian populations (paper in preparation). Meanwhile, by organizing a seminar at
National Taiwan University Hospital in March 2017, we have transferred crucial concepts
and techniques regarding how to perform genetic testing for deafness to the Mongolian
colleagues. In the future, we plan to strengthen the mutual collaboration by expanding
the clinical cohort and upgrading the genetic examination platform using the NGS
techniques.
