Objective: To explore the genetic etiology of a child with microcephaly-cortical blind syndrome.
Methods: Clinical data of the child was collected. The child and her parents were subjected to whole exome sequencing (WES). Candidate variants were validated by Sanger sequencing.
Results: WES revealed that the child has harbored compound heterozygous variants c.1051C>T and c.609delA of the DIAPH1 gene.
Conclusion: The compound heterozygous variation c.1051C>T (p.R351X) and c.609delA (p.E203Efs*19) of the DIAPH1 gene probably underlay the microcephaly-cortical blindness syndrome in this child.