Microlissencephaly caused by a novel compound heterozygous variant in the WDR81 gene : A case report

Abstract

  Here we report the first Japanese case of microlissencephaly caused by a novel compound heterozygous variant in the WDR81 gene (NM_001163809.2:c.3929T>A [p.Val1310Asp] and NM_001163809.2:c.4861T>C [p.Trp1621Arg]). Microlissencephaly cases caused by WDR81 variants were first reported in 2017 ; however, it has not been reported in Japan, and its frequency remains unclear. WDR81 variants should be considered in the differential diagnosis of cases of severe microcephaly in which neurological development is extremely impaired without any other congenital anomalies or growth failure. Since the WDR81 variant involves autosomal recessive inheritance and there is a possibility of recurrence in the next child, appropriate and prompt genetic testing and counseling are required.