{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T22:56:30Z","timestamp":1789512990719,"version":"build-2803163510"},"reference-count":25,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2013,5,13]],"date-time":"2013-05-13T00:00:00Z","timestamp":1368403200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2014,4]]},"abstract":"Primary Autosomal Recessive Microcephaly (MCPH<\/jats:styled-content>) is characterized by congenital microcephaly usually without additional clinical findings. The most common gene implicated in MCPH<\/jats:styled-content> is ASPM<\/jats:styled-content><\/jats:italic> and a large percentage of mutations described have been homozygous and in consanguineous families primarily of East Asian and Middle Eastern origin. ASPM<\/jats:styled-content><\/jats:italic> sequencing was performed on 400 patients between the years 2009 and 2012. Seventy of the patient samples were also analyzed for copy number changes in the ASPM<\/jats:styled-content><\/jats:italic> gene. Forty protein truncating mutations, including 29 novel mutations, were identified in 39 patients with MCPH<\/jats:styled-content>. Approximately one third of patients were compound heterozygotes, indicative of non\u2010consanguinity in these patients. In addition, 46 non\u2010synonymous variants were identified and interpreted as variants of uncertain significance. No deletion\/duplication in ASPM<\/jats:styled-content><\/jats:italic> was identified in the patients analyzed. A wide ethnic distribution was observed, including the first reported patients with ASPM<\/jats:styled-content><\/jats:italic>\u2010related MCPH<\/jats:styled-content> of Hispanic descent. Clinical information was collected for 26 of the ASPM<\/jats:styled-content><\/jats:italic>\u2010positive patients and 41 of the ASPM<\/jats:styled-content><\/jats:italic>\u2010negative patients. As more individuals are identified with MCPH<\/jats:styled-content>, we anticipate that we will continue to identify ASPM<\/jats:styled-content><\/jats:italic> mutation\u2010positive patients from all ethnic origins supporting the occurrence of this genetic condition beyond that of consanguineous families of certain ethnic populations.<\/jats:p>","DOI":"10.1111\/cge.12172","type":"journal-article","created":{"date-parts":[[2013,4,23]],"date-time":"2013-04-23T13:39:20Z","timestamp":1366724360000},"page":"353-358","source":"Crossref","is-referenced-by-count":16,"title":["Analysis of ASPM<\/scp><\/i> in an ethnically diverse cohort of 400 patient samples: perspectives of the molecular diagnostic laboratory"],"prefix":"10.1111","volume":"85","author":[{"given":"CA","family":"Tan","sequence":"first","affiliation":[{"name":"Department of Human Genetics University of Chicago Chicago IL USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"del 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