[Genetic analysis of microcephaly-cortical blind syndrome due to compound heterozygous variants of DIAPH1 gene]

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Oct 10;39(10):1116-1119. doi: 10.3760/cma.j.cn511374-20210909-00737.
[Article in Chinese]

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Blindness / genetics
  • Child
  • Exome Sequencing
  • Female
  • Formins / genetics
  • Genetic Testing
  • Humans
  • Microcephaly* / genetics
  • Mutation
  • Pedigree

Substances

  • DIAPH1 protein, human
  • Formins