Document Details

Document Type : Article In Journal 
Document Title :
Spectrum of GJB2 mutations in a cohort of nonsyndromic hearing loss cases from the Kingdom of Saudi Arabia
Spectrum of GJB2 mutations in a cohort of nonsyndromic hearing loss cases from the Kingdom of Saudi Arabia
 
Document Language : English 
Abstract : Nonsyndromic hearing loss (NSHL) affects a substantial proportion of newborns in the world every year. This proportion increases proportionally with the degree of consanguineous marriages in any society. In the Kingdom of Saudi Arabia, consanguineous marriages are common practice and this is associated with a noticeably high frequency of inherited conditions affecting the resulting progeny, including NSHL. Until now there is no published data on the genetic causes of NSHL in Saudi Arabia, which greatly hindered the ability of local genetic counseling and family planning centers to distinguish between hereditary and nonhereditary forms of NSHL and subsequently could not give information on the possible inheritance of deafness. In addition, the lack of validated genetic tests for NSHL delayed the detection of deafness in affected individuals and may have lowered the efficiency of later medical interventions. Further, the population covered in this study is likely to have a multiethnic background caused by decades of religious and economic migration to this region. To address such problems, we undertook the task of unraveling the genetic causes of hearing loss in Saudi Arabia, starting with identifying the GJB2/DFNB1 mutation spectrum in a cohort of unrelated individuals suffering from mild to profound NSHL. A total of 12 reported GJB2 mutations were identified in 17 out of 109 (15.59%) NSHL cases. Biallelic GJB2 mutations were identified in 11 out of the 109 NSHL cases (10.09%), with c.35delG being the most common (7/11, 63.63%). The remaining six patients were found to have monoallelic GJB2 mutations. Interestingly, biallelic GJB2 mutations were not detected in patients of Arab tribal origins, reflecting the genetic heterogeneity of the western area of the Kingdom of Saudi Arabia. Therefore, ethnically targeted genetic screening for GJB2 mutations could be a useful tool toward the management of NSHL in this area. 
ISSN : 1945-0265 
Journal Name : Genetic testing and molecular biomarkers 
Volume : 14 
Issue Number : 1 
Publishing Year : 1431 AH
2010 AD 
Article Type : Article 
Added Date : Monday, March 7, 2016 

Researchers

Researcher Name (Arabic)Researcher Name (English)Researcher TypeDr GradeEmail
Mohammed Al-QahtaniAl-Qahtani, Mohammed InvestigatorDoctorate 
Ibtessam BaghlabBaghlab, Ibtessam Researcher  
Adeel ChaudharyChaudhary, Adeel ResearcherDoctorate 
Adel AbuzenadahAbuzenadah, Adel ResearcherDoctorate 
Afaf BamanieBamanie, Afaf Researcher  
Kamal DaghistaniDaghistani, Kamal ResearcherDoctorate 
Malek SafiehSafieh, Malek Researcher  
Loai FidaFida, Loai Researcher  
Ashraf DallolDallol, Ashraf ResearcherDoctorate 

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