[Analysis of a case of Warburg micro syndrome type 1 due to variant of RAB3GAP1 gene]

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Dec 10;37(12):1384-1386. doi: 10.3760/cma.j.cn511374-20191015-00528.
[Article in Chinese]

Abstract

Objective: To explore the clinical and genetic characteristics of a child featuring developmental delay.

Methods: The child was subjected to whole exome sequencing. Candidate variant was verified by Sanger sequencing.

Results: Whole genome sequencing revealed that the child has carried compound heterozygous variants c.2607-1G>C and c.899 + 2dupT of the RAB3GAP1 gene, which were respectively derived from her mother and father.

Conclusion: A rare case of Warburg micro syndrome type 1 was diagnosed. The phenotype of the child was consistent with the literature, in addition with dysplasia of palatine arch, prominent high palatal arch and tooth dysplasia. Above finding has provided a basis for genetic counseling and prenatal diagnosis for the family.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple* / genetics
  • Adult
  • Cataract / congenital*
  • Cataract / genetics
  • Child
  • Cornea / abnormalities*
  • Exome Sequencing
  • Female
  • Humans
  • Hypogonadism* / genetics
  • Intellectual Disability* / genetics
  • Male
  • Microcephaly* / genetics
  • Mutation
  • Optic Atrophy* / genetics
  • rab3 GTP-Binding Proteins* / genetics

Substances

  • RAB3GAP1 protein, human
  • rab3 GTP-Binding Proteins

Supplementary concepts

  • Warburg Sjo Fledelius syndrome