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Novel splice-site mutation in WDR62 revealed by whole-exome sequencing in a Sudanese family with primary microcephaly.

Congenital anomalies - 1 May 2016

Bastaki Fatma, Mohamed Madiha, Nair Pratibha, Saif Fatima, Tawfiq Nafisa, Aithala Gururaj, El-Halik Majdi, Al-Ali Mahmoud, Hamzeh Abdul Rezzak

Abstract excerpt

The WDR62 gene encodes a scaffold protein of the c-Jun N-terminal kinase (JNK) pathway. It plays a critical role in laying out various cellular layers in the cerebral cortex during embryogenesis, and hence the dramatic clinical features resulting from WDR62 mutations. These mutations are associated with autosomal recessive primary microcephaly 2, with or without cortical malformations (MCPH2). Using whole exome...

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PMID: 26577670
DOI: 10.1111/cga.12144

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