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A novel homozygous splicing mutation of CASC5 causes primary microcephaly in a large Pakistani family.

Human genetics - 1 Feb 2016

Szczepanski Sandra, Hussain Muhammad Sajid, Sur Ilknur, Altmüller Janine, Thiele Holger, Abdullah Uzma, Waseem Syeda Seema, Moawia Abubakar, Nürnberg Gudrun, Noegel Angelika Anna, Baig Shahid Mahmood, Nürnberg Peter

Abstract excerpt

Primary microcephaly is a disorder characterized by a small head and brain associated with impaired cognitive capabilities. Mutations in 13 different genes encoding centrosomal proteins and cell cycle regulators have been reported to cause the disease. CASC5, a gene encoding a protein important for kinetochore formation and proper chromosome segregation during mitosis, has been suggested to be associated with...

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PMID: 26621532
DOI: 10.1007/s00439-015-1619-5

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