Document Details

Document Type : Thesis 
Document Title :
Determining the Frequency of Mutations in Deafness Genes Associated with Nonsyndromic Hearing Loss in the Western Region of Saudi Arabia
تحديد تردد الطفرات في مورثات مرتبطة بفقدان السمع الغير عرضي الوراثي في المنطقة الغربية من المملكة العربية السعودية
 
Subject : faculty of Applied Medical Sciences 
Document Language : Arabic 
Abstract : Background: Nonsyndromic hearing loss is one of the most common diseases in Saudi Arabia. It occurs in 1 out of 1000 children. Knowing the mutations that cause this disease could help decrease its occurrence and provide proper genetic counseling for families with affected children. The high rate of consanguineous marriages in the western region may increase the frequency of children with hearing loss. By doing this research, we aim to determine the frequency of 8 mutations in patients with Hearing loss. Screening for these mutations has never been done in the western region of Saudi Arabia. Methods: A total of 124 blood samples were collected from patients with bilateral, severe to profound nonsyndromic hearing loss from King Abdulaziz University Hospital and King Fahd General Hospital, Jeddah. Buccal swaps were collected from 95 healthy normal control. DNA was extracted from samples, then genotyped by Taqman genotyping assay to detect the presence of 8 mutations. Results and discussion: c.100C>T mutation in TMC1 gene was detected in two patients. Both c.2743G>T and c,2450T>C mutations in PCDH15 gene were found in two related patients. MYO7splice site mutation was detected in three patients. C.3470G>A mutation in OTOF gene was detected in four patients, with two are father and son who also had c.56G>A mutation in C2orf70, OTOF gene. Finally, c.2239G>A mutation in OTOFX gene was detected in three patients, with two being a boy/girl sibling. Conclusion: the frequency of these mutations are relatively low in the western region of Saudi Arabia. They are not considered the main cause for nonsyndromic hearing loss. This may be due to the presence of many ethnic groups in the area. Further studies are recommended to try to identify the most common mutations causing hearing loss, in hope that it will help prevent the increasing prevalence of the disease in our society. 
Supervisor : Dr. Ashraf Dallol 
Thesis Type : Master Thesis 
Publishing Year : 1441 AH
2020 AD 
Added Date : Monday, January 13, 2020 

Researchers

Researcher Name (Arabic)Researcher Name (English)Researcher TypeDr GradeEmail
ليلى صالح طهTaha, Laila SalehResearcherMaster 

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