{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T04:23:25Z","timestamp":1787027005777,"version":"build-2736575974"},"reference-count":30,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2021,2,11]],"date-time":"2021-02-11T00:00:00Z","timestamp":1613001600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pediatr."],"abstract":"<jats:p>\n                    Autosomal recessive primary microcephaly (MCPH) is a neurodevelopmental defect that is characterized by reduced head circumference at birth along with non-progressive intellectual disability. Till date, 25 genes related to MCPH have been reported so far in humans. The\n                    <jats:italic>ASPM<\/jats:italic>\n                    (abnormal spindle-like, microcephaly-associated) gene is among the most frequently mutated MCPH gene. We studied three different families having primary microcephaly from different regions of Saudi Arabia. Whole exome sequencing (WES) and Sanger sequencing were done to identify the genetic defect. Collectively, three novel variants were identified in the\n                    <jats:italic>ASPM<\/jats:italic>\n                    gene from three different primary microcephaly families. Family 1, showed a deletion mutation leading to a frameshift mutation c.1003del. (p.Val335\n                    <jats:sup>*<\/jats:sup>\n                    ) in exon 3 of the\n                    <jats:italic>ASPM<\/jats:italic>\n                    gene and family 2, also showed deletion mutation leading to frameshift mutation c.1047del (p.Gln349Hisfs\n                    <jats:sup>*<\/jats:sup>\n                    18), while in family 3, we identified a missense mutation c.5623A&amp;gt;G leading to a change in protein (p.Lys1875Glu) in exon 18 of the\n                    <jats:italic>ASPM<\/jats:italic>\n                    gene underlying the disorder. The identified respective mutations were ruled out in 100 healthy control samples. In conclusion, we found three novel mutations in the\n                    <jats:italic>ASPM<\/jats:italic>\n                    gene in Saudi families that will help to establish a disease database for specified mutations in Saudi population and will further help to identify strategies to tackle primary microcephaly in the kingdom.\n                  <\/jats:p>","DOI":"10.3389\/fped.2020.627122","type":"journal-article","created":{"date-parts":[[2021,2,12]],"date-time":"2021-02-12T05:09:34Z","timestamp":1613106574000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":18,"title":["Whole Exome Sequencing Identifies Three Novel Mutations in the ASPM Gene From Saudi Families Leading to Primary Microcephaly"],"prefix":"10.3389","volume":"8","author":[{"given":"Muhammad Imran","family":"Naseer","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angham Abdulrahman","family":"Abdulkareem","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Osama Yousef","family":"Muthaffar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sameera","family":"Sogaty","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiba","family":"Alkhatabi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Almaghrabi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adeel G.","family":"Chaudhary","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2021,2,11]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"1010","DOI":"10.1038\/ng.682","article-title":"WDR62 is associated with the spindle pole and is mutated in human microcephaly","volume":"42","author":"Nicholas","year":"2010","journal-title":"Nat Genet."},{"key":"B2","doi-asserted-by":"publisher","first-page":"207","DOI":"10.1038\/nature09327","article-title":"Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations","volume":"467","author":"Bilg\u00fcvar","year":"2010","journal-title":"Nature."},{"key":"B3","doi-asserted-by":"publisher","first-page":"363","DOI":"10.1016\/j.pneurobio.2009.11.002","article-title":"Many roads lead to primary autosomal recessive microcephaly","volume":"90","author":"Kaind","year":"2010","journal-title":"Prog Neurobiol."},{"key":"B4","doi-asserted-by":"publisher","first-page":"717","DOI":"10.1086\/429930","article-title":"Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings","volume":"76","author":"Woods","year":"2005","journal-title":"Am J Hum Genet."},{"key":"B5","first-page":"720","article-title":"Abnormal mental development","volume-title":"Emery and Rimoin's Principles and Practice of Medical Genetics","author":"Bundey","year":"1997"},{"key":"B6","doi-asserted-by":"publisher","first-page":"S4","DOI":"10.1186\/1755-8794-8-S1-S4","article-title":"Molecular genetics of human primary microcephaly: an overview","volume":"8","author":"Faheem","year":"2015","journal-title":"BMC Med Genom."},{"key":"B7","doi-asserted-by":"publisher","first-page":"707","DOI":"10.1136\/archdischild-2012-302882","article-title":"Investigating microcephaly","volume":"98","author":"Woods","year":"2013","journal-title":"Arch Dis Child."},{"key":"B8","doi-asserted-by":"publisher","first-page":"881","DOI":"10.1083\/jcb.137.4.881","article-title":"The Drosophila gene abnormal spindle encodes a novel microtubule-associated protein that associates with the polar regions of the mitotic spindle","volume":"137","author":"Saunders","year":"1997","journal-title":"J. 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