تفاصيل الوثيقة

نوع الوثيقة : مقال في مجلة دورية 
عنوان الوثيقة :
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
 
لغة الوثيقة : الانجليزية 
المستخلص : 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 GJB2mutations. 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. 
ردمد : 1945-0257 
اسم الدورية : GENETIC TESTING AND MOLECULAR BIOMARKERS 
المجلد : 11 
العدد : 23 
سنة النشر : 1430 هـ
2009 م 
نوع المقالة : مقالة علمية 
تاريخ الاضافة على الموقع : Wednesday, April 14, 2010 

الباحثون

اسم الباحث (عربي)اسم الباحث (انجليزي)نوع الباحثالمرتبة العلميةالبريد الالكتروني
محمد حسين القحطانيAl-Qahtani, Mohammed Hussainباحث رئيسيدكتوراهmhalqahtani@kau.edu.sa
أشرف دلولDallol, Ashraf باحثدكتوراهadallol@kau.edu.sa
عديل جلزار شودريChaudhary, Adeel باحث مشاركدكتوراهadeel.gc@gmail.com
عادل محمد أبو زنادةAbuzenadah, Adel Mohammedباحث مشاركدكتوراهaabuzenadah@kau.edu.sa

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