Abstract
Autosomal recessive primary microcephaly (MCPH) is a heterogeneous disorder which mainly affects neurodevelopment. Generally, MCPH patients exhibit mild brain structural anomalies and simplified cerebral cortex, but few recently identified genes are associated with severe brain malformations. Here, we report a five generation Pakistani family with three affected individuals presenting primary microcephaly, intellectual disability, schizencephaly and hypoplasia of corpus callosum. The comparison of available clinical information led to candidate gene mapping and sequencing of WD repeat domain 62 (WDR62) gene which is mostly associated with severe brain malformations. A homozygous deletion mutation c.1143delA was detected in exon 9 of WDR62 gene, in all affected individuals, which resulted in frameshift and protein truncation (p.H381PfsX48). This study supports the frequent involvement of WDR62 in patients with gross brain malformations.
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Acknowledgments
We wish to thank members of this family for their voluntary participation and cooperation with this study. This research was supported by grant from the HEC (NRPU-1118).
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We declare that authors have no competing interests for this article.
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Memon, M.M., Raza, S.I., Basit, S. et al. A novel WDR62 mutation causes primary microcephaly in a Pakistani family. Mol Biol Rep 40, 591–595 (2013). https://doi.org/10.1007/s11033-012-2097-7
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DOI: https://doi.org/10.1007/s11033-012-2097-7