{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T03:57:21Z","timestamp":1790740641627,"version":"4.1.0"},"reference-count":28,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2016,6,2]],"date-time":"2016-06-02T00:00:00Z","timestamp":1464825600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100007787","name":"National Research Centre","doi-asserted-by":"publisher","award":["10010605"],"award-info":[{"award-number":["10010605"]}],"id":[{"id":"10.13039\/100007787","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2016,8]]},"abstract":"<jats:sec><jats:label\/><jats:p>Autosomal recessive primary microcephaly (MCPH) is an abnormal proliferation of neurons during brain development that leads to a small brain size but architecturally normal in most instances. Mutations in the <jats:italic>ASPM<\/jats:italic> gene have been identified to be the most prevalent. Thirty\u2010seven patients from 30 unrelated families with a clinical diagnosis of MCPH were enrolled in this study. Screening of <jats:italic>ASPM<\/jats:italic> gene mutations was performed by targeted linkage analysis followed by direct sequencing. Thirteen protein truncating mutations of the <jats:italic>ASPM<\/jats:italic> were identified in 15 families (50%), eight of which were novel mutations. The mutations detected were eight nonsense, four frameshift, and one splice site. Two of these mutations (p.R1327* and p.R3181*) were recurrent and shared similar haplotypes suggesting founder effect. Patients with <jats:italic>ASPM<\/jats:italic> mutations had mild to severe intellectual disability and variable degrees of simplified gyral pattern and small frontal lobe. In addition, hypoplasia of corpus callosum (18 patients), mildly small cerebellar vermis (10 patients), and relatively small pons (13 patients) were found in 85.7%, 47.6%, and 61.9%, respectively. Furthermore, one patient had porencephaly and another had a small midline cyst. Epilepsy was documented in two patients (9.5%). Non\u2010neurologic abnormalities consisted of growth retardation (four patients), and co\u2010incidental association of oculo\u2010cutaneous albinism (one patient). Our study expands the mutation spectrum of <jats:italic>ASPM<\/jats:italic>. Moreover, the simplified gyral pattern and small frontal lobe together with hypoplastic corpus callosum, small cerebellum and pons enable <jats:italic>ASPM<\/jats:italic> mutated patients to be distinguished. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37724","type":"journal-article","created":{"date-parts":[[2016,6,2]],"date-time":"2016-06-02T06:09:13Z","timestamp":1464847753000},"page":"2133-2140","source":"Crossref","is-referenced-by-count":34,"title":["Molecular and phenotypic spectrum of <i>ASPM<\/i>\u2010related primary microcephaly: Identification of eight novel mutations"],"prefix":"10.1002","volume":"170","author":[{"given":"Mohamed S.","family":"Abdel\u2010Hamid","sequence":"first","affiliation":[{"name":"Medical Molecular Genetics Department, Human Genetics and Genome Research Division National Research Centre Cairo Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manal F.","family":"Ismail","sequence":"additional","affiliation":[{"name":"Biochemistry Department Faculty of Pharmacy, Cairo University Cairo Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hebatallh A.","family":"Darwish","sequence":"additional","affiliation":[{"name":"Biochemistry Department Faculty of Pharmacy, Cairo University Cairo Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laila K.","family":"Effat","sequence":"additional","affiliation":[{"name":"Medical Molecular Genetics Department, Human Genetics and Genome Research Division National Research Centre Cairo Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maha S.","family":"Zaki","sequence":"additional","affiliation":[{"name":"Clinical Genetics Department, Human Genetics and Genome Research Division National Research Centre Cairo Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ghada M. 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