@entity3491 ( @entity3491 ) 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 @entity3491 . Until now there is no published data on the genetic causes of @entity3491 in Saudi Arabia, which greatly hindered the ability of local genetic counseling and family planning centers to distinguish between hereditary and nonhereditary forms of @entity3491 and subsequently could not give information on the possible inheritance of @entity2319 . In addition, the lack of validated genetic tests for @entity3491 delayed the detection of @entity2319 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 @entity393 in Saudi Arabia, starting with identifying the @entity3492 / @entity3492 mutation spectrum in a cohort of unrelated individuals suffering from mild to profound @entity3491 . A total of 12 reported @entity3492 mutations were identified in 17 out of 109 (15.59%) @entity3491 cases. Biallelic @entity3492 mutations were identified in 11 out of the 109 @entity3491 cases (10.09%), with @entity4701 being the most common (7/11, 63.63%). The remaining six @entity1 were found to have monoallelic @entity3492 mutations. Interestingly, biallelic @entity3492 mutations were not detected in @entity1 of Arab tribal origins, reflecting the genetic heterogeneity of the western area of the Kingdom of Saudi Arabia. Therefore, ethnically targeted genetic screening for @entity3492 mutations could be a useful tool toward the management of @entity3491 in this area.

Spectrum of XXXX mutations in a cohort of nonsyndromic @entity393 cases from the Kingdom of Saudi Arabia.

@entity1 :: ('9606', 'Species') :: ['patients'] @entity3492 :: ('2706', 'Gene') :: ['DFNB1', 'GJB2'] @entity3491 :: ('MESH:C580334', 'Disease') :: ['Nonsyndromic hearing loss', 'NSHL'] @entity2319 :: ('MESH:D003638', 'Disease') :: ['deafness'] @entity4701 :: ('c|DEL|35|G', 'DNAMutation') :: ['c.35delG'] @entity393 :: ('MESH:D034381', 'Disease') :: ['hearing loss']
@entity3492 :: (2706,Gene) :: ['GJB2']
