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Homozygous Nonsense Mutation in the ASPM Gene Causes MCPH in Consanguineous Pakistani Families

Homozygous Nonsense Mutation in the ASPM Gene Causes MCPH in Consanguineous Pakistani Families

Ansar Ahmed Abbasi1,*, Kathrin Blasius2-4, Imtiaz Ahmed6, Hao Hu7, Sylvie Picker-Minh2-4,8, Muhammad Nasim Khan5, Khalid Hameed1, Aneela Gulnaz1, Zahid Latif5, Abdul Rauf5 and Angela M. Kaindl2-4,8

1Department of Zoology, Mirpur University of Science and Technology, Mirpur 10250, Pakistan
2Institute of Neuroanatomy and Cell Biology, Charité-Universitätsmedizin Berlin, Berlin, Germany
3Berlin Institute of Health, Anna-Louisa-Karsch Strasse 2, 10178, Berlin, Germany
4Center for Chronically Sick Children (Sozialpädiatrisches Zentrum, SPZ), Charité-Universitätsmedizin Berlin, Berlin, Germany
5Department of Zoology, University of Azad Jammu and Kashmir, P.O. Box 13100, Muzaffarabad, Pakistan
6Department of Veterinary and Animal Sciences, University of Poonch Rawalakot, AJK, Pakistan
7Guangzhou Women and Children’s Medical Center, Guangzhou, China
8Department of Pediatric Neurology, Charité-Universitätsmedizin Berlin, Berlin, Germany

Ansar Ahmed Abbasi and Kathrin Blasius contributed equally in this study.

*     Corresponding author:



Autosomal recessive primary microcephaly (MCPH) is a rare neurodevelopmental disorder characterized by severe reduction in the brain volume that affects especially the neocortex, and intellectual disability. To date 17 genes have been linked with this disease. Biallelic mutations in the abnormal spindle-like, microcephaly associated gene ASPM causes MCPH type 5, the most common MCPH subtype. In the current study we recruited two families from Sialkot region of Pakistan which were assessed by whole exome sequencing and cosegregation analysis. We identified a previously described mutation c.4802C>G (p.S1601*) in the ASPM gene in both families. This study further underlines that mutations in the ASPM gene are a common cause for microcephaly in the Pakistani population and updates our knowledge regarding the frequent involvement of ASPM in microcephaly.

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Pakistan Journal of Zoology


Pakistan J. Zool., Vol. 56, Iss. 1, pp. 01-501


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