Saudi Med J
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To characterize the potential role of Y-chromosome microdeletion (YCM) as a genetic cause for infertility in the Arab population from the Al Madinah Al Munawarah. ⋯ Our findings for prevalence in Arab population of Al Madinah Al Munawarah is comparable to other studies from Saudi Arabia. However, large variance in the prevalence of YCM in the Arab population of other Middle Eastern countries is reportedly observed. The YCM has significant prognostic value, since it indicates the spermatogenic profile, the success probability of assisted reproduction technique (ART) procedures as testicular sperm extraction and apprise of potential risk of vertical transmission of microdeletion from father to son in patients opting for ART. With these considerations, we re-emphasize the need for genetic screening of YCM in azoo- and oligozoospermic infertile men.
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To study the spectrum and classification of ATP7B variants in Iraqi children with Wilson disease by direct gene sequencing with clinical correlation. ⋯ The mutational spectrum of ATP7B in the Iraqi population is diverse, despite the high rates of consanguinity. It differs from that of neighboring countries. We provided evidence for ten VUS to be reclassified as deleterious, raising questions about the diagnostic criteria for patients with higher Leipzig scores and a single deleterious variant.