NDLI: Spectrum of GJB2 mutations in a cohort of nonsyndromic hearing loss cases from the Kingdom of Saudi Arabia.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Al-Qahtani, Mohammed H. Baghlab, Ibtessam Chaudhary, Adeel G. Abuzenadah, Adel M. Bamanie, Afaf Daghistani, Kamal J. Safieh, Malek Fida, Loai Dallol, Ashraf
Spatial Coverage	Saudi Arabia
Description	Author Affiliation: Al-Qahtani MH ( Center of Excellence in Genomic Medicine Research, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia. mhalqahtani@kau.edu.sa)
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.
File Format	HTM / HTML
ISSN	19450265
Issue Number	1
Volume Number	14
e-ISSN	19450257
Journal	Genetic Testing and Molecular Biomarkers
Language	English
Publisher	Mary Ann Liebert
Publisher Date	2010-02-01
Publisher Place	United States
Access Restriction	Subscribed
Subject Keyword	Discipline Genetics Discipline Molecular Biology Connexins Genetics Hearing Loss Mutation Amino Acid Substitution Base Sequence Codon, Nonsense Cohort Studies Consanguinity Dna Dna Mutational Analysis Dna Primers Female Genetic Predisposition To Disease Humans Infant, Newborn Male Mutation, Missense Saudi Arabia Sequence Deletion Journal Article Research Support, Non-u.s. Gov't
Content Type	Text
Resource Type	Article
Subject	Genetics (clinical)

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