{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,10]],"date-time":"2026-07-10T10:00:51Z","timestamp":1783677651553,"version":"3.55.0"},"reference-count":16,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2012,8,7]],"date-time":"2012-08-07T00:00:00Z","timestamp":1344297600000},"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":[[2013,5]]},"abstract":"Autosomal recessive primary microcephaly (MCPH<\/jats:styled-content>) is caused by mutations in at least eight different genes involved either in cell division or DNA<\/jats:styled-content> repair. Most mutations are identified in consanguine families from Pakistan, Iran and India. To further assess their genetic heterogeneity and mutational spectra, we have analyzed 57 consanguine Pakistani MCPH<\/jats:styled-content> families. In 34 MCPH<\/jats:styled-content> families, we detected linkage to five out of the eight well\u2010characterized disease loci and identified mutations in 27 families, leaving seven families without mutations in the coding exons of the presumably underlying MCPH<\/jats:styled-content> genes. In the MCPH<\/jats:styled-content> cohort 23 families could not be linked to any of the known loci, pointing to remarkable locus heterogeneity. The majority of mutations were found in ASPM<\/jats:styled-content><\/jats:italic> followed by WDR62<\/jats:styled-content><\/jats:italic>, CENPJ<\/jats:styled-content><\/jats:italic>, CEP152<\/jats:styled-content><\/jats:italic> and MCPH1<\/jats:styled-content><\/jats:italic>. One ASPM<\/jats:styled-content><\/jats:italic> mutation (p.Trp1326*) was found in as many as eight families suggesting a Pakistani founder mutation. One third of the families were linked to ASPM<\/jats:styled-content><\/jats:italic> followed by WDR62<\/jats:styled-content><\/jats:italic> confirming previous data. We identified three novel ASPM<\/jats:styled-content><\/jats:italic> mutations, four novel WDR62<\/jats:styled-content><\/jats:italic> mutations, one novel MCPH1<\/jats:styled-content><\/jats:italic> mutation and two novel CEP152<\/jats:styled-content><\/jats:italic> mutations. CEP152<\/jats:styled-content><\/jats:italic> mutations have not been described before in the Pakistani population.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2012.01932.x","type":"journal-article","created":{"date-parts":[[2012,7,6]],"date-time":"2012-07-06T20:03:22Z","timestamp":1341605002000},"page":"446-451","source":"Crossref","is-referenced-by-count":46,"title":["Genetic heterogeneity in Pakistani microcephaly families"],"prefix":"10.1111","volume":"83","author":[{"given":"M","family":"Sajid Hussain","sequence":"first","affiliation":[{"name":"Human Molecular Genetics Laboratory, Health Biotechnology Division National Institute for Biotechnology & Genetic Engineering (NIBGE) Faisalabad Pakistan"},{"name":"Cologne Center for Genomics (CCG) University of Cologne Cologne Germany"},{"name":"Center for Molecular Medicine Cologne (CMMC) University of Cologne Cologne Germany"},{"name":"Institute of Biochemistry I, Medical Faculty University of Cologne Cologne Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Marriam Bakhtiar","sequence":"additional","affiliation":[{"name":"Human Molecular Genetics Laboratory, Health Biotechnology Division National Institute for Biotechnology & Genetic Engineering (NIBGE) Faisalabad Pakistan"},{"name":"Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine University of Copenhagen Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Farooq","sequence":"additional","affiliation":[{"name":"Human Molecular Genetics Laboratory, Health Biotechnology Division National Institute for Biotechnology & Genetic Engineering (NIBGE) Faisalabad Pakistan"},{"name":"Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine University of Copenhagen Copenhagen 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