Case Report: Two Cases of Autosomal Recessive Primary Microcephaly Caused by WDR62 Gene Mutation

Abstract

Background: Autosomal recessive primary microcephaly (MCPH) is a rare genetic disease characterized by a reduction in head circumference at birth and intellectual disability with or without structural abnormalities of the brain. Due to the heterogeneity of its phenotype, we cannot effectively predict the severity of its clinical manifestations at present, which is also a significant problem that needs to be overcome in the diagnosis and prevention of this disease.Case presentation: In both cases described here, full exon sequencing was performed after the medical history of both probands, and their parents were collected, as well as prenatal diagnosis of each fetus during pregnancy. The two probands were compound heterozygous mutations and were accompanied by some degree of abnormal brain structure. The fetal Sanger test results from case 1 also suggested a compound heterozygous mutation of c.2828dupA and c.4384delA, and the fetal Sanger test results from case 2 showed no obvious abnormality.Conclusions: The pathogenesis of MPCH caused by WDR62 gene mutation is not yet fully understood. Whole-exome sequencing and prenatal diagnosis can be used to increase the diagnosis rate and prevent the occurrence of this disease.