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

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.