{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,24]],"date-time":"2026-10-24T00:57:34Z","timestamp":1792803454956,"version":"4.5.0"},"reference-count":52,"publisher":"King Faisal Specialist Hospital and Research Centre","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Ann Saudi Med"],"published-print":{"date-parts":[[2020,7]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n          <jats:sec>\n            <jats:title>BACKGROUND:<\/jats:title>\n            <jats:p>\n              Some mutations of the cystic fibrosis transmembrane regulator (\n              <jats:italic>CFTR<\/jats:italic>\n              ) gene may impair spermatogenesis or cause a congenital absence of the vas deferens that manifests as isolated male infertility.\n            <\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>OBJECTIVE:<\/jats:title>\n            <jats:p>\n              Assess the frequency and analyze the spectrum of\n              <jats:italic>CFTR<\/jats:italic>\n              gene variations in Saudi men with primary infertility.\n            <\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>DESIGN:<\/jats:title>\n            <jats:p>Prospective, cross-sectional.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>SETTING:<\/jats:title>\n            <jats:p>Tertiary care specialist hospital in Jeddah.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>PATIENTS AND METHODS:<\/jats:title>\n            <jats:p>\n              Genomic DNA was extracted from peripheral blood samples of Saudi men who presented with primary infertility to the outpatient andrology clinic with either azoospermia or oligoasthenoteratozoospermia. Polymerase chain reaction and direct sequencing were used to identify all variants of the\n              <jats:italic>CFTR<\/jats:italic>\n              gene.\n            <\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>MAIN OUTCOME MEASURES:<\/jats:title>\n            <jats:p>\n              Proportion of the patients with a mutant\n              <jats:italic>CFTR<\/jats:italic>\n              gene and the spectrum of\n              <jats:italic>CFTR<\/jats:italic>\n              gene variations.\n            <\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>SAMPLE SIZE:<\/jats:title>\n            <jats:p>50 infertile Saudi men.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>RESULTS:<\/jats:title>\n            <jats:p>This study identified 10 CFTR gene variants in 7 (14%) subjects (100 chromosomes). The detected variants and polymorphisms were: c.1408G&gt;A, c.4389G&gt;A, c.2562T&gt;G, c.869+11C&gt;T, c.2909-92G&gt;A, c.3469-65C&gt;A, c.1210-6delT, c.1210-6T&gt;A, c.2988+1G&gt;A, and c.1210-13GT&gt;TG.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>CONCLUSION:<\/jats:title>\n            <jats:p>\n              We demonstrated that 14% of the study subjects had one or more\n              <jats:italic>CFTR<\/jats:italic>\n              mutations and these were compounded in most of the affected patients. The spectrum of\n              <jats:italic>CFTR<\/jats:italic>\n              gene mutations in these subjects was similar to the mutations reported in other studies throughout the world.\n            <\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>LIMITATIONS:<\/jats:title>\n            <jats:p>Small sample size and the lack of a control group.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>CONFLICTS OF INTEREST:<\/jats:title>\n            <jats:p>None.<\/jats:p>\n          <\/jats:sec>","DOI":"10.5144\/0256-4947.2020.321","type":"journal-article","created":{"date-parts":[[2020,8,6]],"date-time":"2020-08-06T16:39:28Z","timestamp":1596731968000},"page":"321-329","source":"Crossref","is-referenced-by-count":8,"title":["Cystic fibrosis gene mutations and polymorphisms in Saudi men with infertility"],"prefix":"10.5144","volume":"40","author":[{"given":"Talal","family":"AlMaghamsi","sequence":"first","affiliation":[{"name":"From the Department of Pediatrics, King Faisal Specialist Hospital and Research Center-Jeddah, Jeddah, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naeem","family":"Iqbal","sequence":"additional","affiliation":[{"name":"From the Department of Pathology and Laboratory Medicine, King Faisal Specialist Hospital and Research Center-Jeddah, Jeddah, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3455-5288","authenticated-orcid":true,"given":"Nabil Abdullrahman","family":"Al-Esaei","sequence":"additional","affiliation":[{"name":"From the Department of Pediatrics, King Faisal Specialist Hospital and Research Center-Jeddah, Jeddah, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muhsina","family":"Mohammed","sequence":"additional","affiliation":[{"name":"From the Department of Pediatrics, King Faisal Specialist Hospital and Research Center-Jeddah, Jeddah, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kamel Zein","family":"Eddin","sequence":"additional","affiliation":[{"name":"From the Department of Pediatrics, King Faisal Specialist Hospital and Research Center-Jeddah, Jeddah, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fatima","family":"Ghurab","sequence":"additional","affiliation":[{"name":"From the Department of Pediatrics, King Faisal Specialist Hospital and Research Center-Jeddah, Jeddah, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nabil","family":"Moghrabi","sequence":"additional","affiliation":[{"name":"From the Department of Genetics, King Faisal Specialist Hospital and Research Center-Jeddah, Jeddah, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emily","family":"Heaphy","sequence":"additional","affiliation":[{"name":"From the Research Center, King Faisal Specialist Hospital and Research Center-Jeddah, Jeddah, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Islam","family":"Junaid","sequence":"additional","affiliation":[{"name":"From the Department of Surgery, King Faisal Specialist Hospital and Research Center-Jeddah, Jeddah, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"3134","reference":[{"key":"e_1_3_1_2_2","unstructured":"WHO Human Genetics Program. 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