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Mutation screening of multiple Pakistani MCPH families revealed novel and recurrent protein-truncating mutations of ASPM.

Biotechnology and applied biochemistry - 1 Dec 2022

Hussain Sadam, Nawaz Amjad, Hamid Malaika, Ullah Waseem, Khan Iqbal Nawaz, Afshan Mehak, Rehman Adil, Nawaz Hamid, Halswick Julia, Rehman Shoaib-Ur, Ahmad Sohail, Muzammal Muhammad, Muhammad Noor, Jan Abid, Khan Saadullah, Windpassinger Christian, Khan Muzammil Ahmad

Abstract excerpt

Autosomal primary microcephaly (MCPH) is a heterogenetic disorder that affects brain's cerebral cortex size and leads to a reduction in the cranial vault. Along with the hallmark feature of reduced head circumference, microcephalic patients also exhibit a variable degree of intellectual disability as well. Genetic studies have reported 28 MCPH genes, most of which produce microtubule-associated proteins and are...

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PMID: 34826358
DOI: 10.1002/bab.2286

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