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
ABSTRACT
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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October 2018
Vol. 50, Iss. 5, Pages 1601-1998
