Patients with microcephaly, cortical malformations, and MR have moderate to severe MR and brain malformations including: callosal abnormalities, polymicrogyria, schizencephaly and subcortical heterotopia. Some of these patients have also been described with seizures. This form of MCPH is caused by mutations in the WDR62 gene. Homozygous missense and frameshift mutations were first reported in seven consanguineous families with primary microcephaly and simplified gyri. Like other MCPH genes, WDR62 encodes a spindle pole protein that is expressed in neuronal precursor cells undergoing mitosis in the proliferative phase of neurogenesis No deletions and/or duplications in WDR62 have been reported in association with autosomal recessive primary microcephaly to date.
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