{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T18:33:18Z","timestamp":1777660398613,"version":"3.51.4"},"reference-count":24,"publisher":"SAGE Publications","issue":"11","license":[{"start":{"date-parts":[[2020,11,1]],"date-time":"2020-11-01T00:00:00Z","timestamp":1604188800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Genetic Testing and Molecular Biomarkers"],"published-print":{"date-parts":[[2020,11]]},"abstract":"<jats:sec>\n                    <jats:title>Objectives:<\/jats:title>\n                    <jats:p>Nonsyndromic orofacial clefts (NSOFCs) are the most common craniofacial malformations observed across the globe. They are classified into three types: (a) cleft palate, (b) cleft lip, and (c) cleft lip and palate. To identify the potential candidate genes contributing to polygenic diseases such as NSOFC, linkage analyses, genome-wide association studies, and genomic rearrangements can be used. Genomic analyses, based on massively parallel next-generation sequencing technologies, play a vital role in deciphering the genetic bases of NSOFCs.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Materials and Methods:<\/jats:title>\n                    <jats:p>In this study, whole exome sequencing was employed to detect genes that likely contributed to the NSOFC phenotype in a consanguineous Saudi family.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>\n                      The exome analysis revealed\n                      <jats:italic toggle=\"yes\">NRP1<\/jats:italic>\n                      (rs35320960) as one potential candidate gene that is involved in bone differentiation. The\n                      <jats:italic toggle=\"yes\">RPL27A<\/jats:italic>\n                      gene (rs199996172), which plays a crucial role in ribosome biogenesis, also passed all filters to serve as a candidate gene for NSOFC in this family. Rare variants are situated within the 5\u2032 UTR of these two genes.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion:<\/jats:title>\n                    <jats:p>\n                      The study suggests that rare variants in\n                      <jats:italic toggle=\"yes\">NRP1<\/jats:italic>\n                      and\n                      <jats:italic toggle=\"yes\">RPL27A<\/jats:italic>\n                      may be associated with NSOFC disease etiology.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1089\/gtmb.2019.0233","type":"journal-article","created":{"date-parts":[[2020,10,29]],"date-time":"2020-10-29T23:33:55Z","timestamp":1604014435000},"page":"723-731","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":11,"title":["Identification of Causative Variants Contributing to Nonsyndromic Orofacial Clefts Using Whole-Exome Sequencing in a Saudi Family"],"prefix":"10.1177","volume":"24","author":[{"given":"Hadiah Bassam","family":"Al Mahdi","sequence":"first","affiliation":[{"name":"Princess Al-Jawhara Al-Ibrahim Center of Excellence in Research of Hereditary Disorders (PACER-HD), King Abdulaziz University, Jeddah, Saudi Arabia."},{"name":"Department of Biological Sciences, Faculty of Science, King Abdulaziz University, Jeddah, Saudi Arabia."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sherif","family":"Edris","sequence":"additional","affiliation":[{"name":"Princess Al-Jawhara Al-Ibrahim Center of Excellence in Research of Hereditary Disorders (PACER-HD), King Abdulaziz University, Jeddah, Saudi Arabia."},{"name":"Department of Biological Sciences, Faculty of Science, King Abdulaziz University, Jeddah, Saudi Arabia."},{"name":"Department of Genetics, Faculty of Agriculture, Ain Shams University, Cairo, Egypt."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ahmed","family":"Bahieldin","sequence":"additional","affiliation":[{"name":"Department of Biological Sciences, Faculty of Science, King Abdulaziz University, Jeddah, Saudi Arabia."},{"name":"Department of Genetics, Faculty of Agriculture, Ain Shams University, Cairo, Egypt."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jumana Y.","family":"Al-Aama","sequence":"additional","affiliation":[{"name":"Princess Al-Jawhara Al-Ibrahim Center of Excellence in Research of Hereditary Disorders (PACER-HD), King Abdulaziz University, Jeddah, Saudi Arabia."},{"name":"Department of Genetic Medicine, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ramu","family":"Elango","sequence":"additional","affiliation":[{"name":"Princess Al-Jawhara Al-Ibrahim Center of Excellence in Research of Hereditary Disorders (PACER-HD), King Abdulaziz University, Jeddah, Saudi Arabia."},{"name":"Department of Genetic Medicine, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bassam Adnan","family":"Jamalalail","sequence":"additional","affiliation":[{"name":"Department of Genetic Medicine, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Heba Jafar","family":"Sabbagh","sequence":"additional","affiliation":[{"name":"Department of Pediatric Dentistry, Faculty of Dentistry, King Abdulaziz University, Jeddah, Saudi Arabia."}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2020,11,10]]},"reference":[{"key":"e_1_3_5_2_1","doi-asserted-by":"publisher","DOI":"10.4172\/2332-0702.1000233"},{"key":"e_1_3_5_3_1","first-page":"356","article-title":"Facial cleft and associated anomalies: incidence among infants at a Jordanian medical centre","volume":"14","author":"Aqrabawi HE","year":"2008","unstructured":"Aqrabawi HE (2008) Facial cleft and associated anomalies: incidence among infants at a Jordanian medical centre. 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