Molecular biology reports
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Molecular biology reports · Jan 2013
A novel WDR62 mutation causes primary microcephaly in a Pakistani family.
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. ⋯ 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.