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Novel mutation in the RAB3GAP1 gene, the first diagnosed Warburg Micro syndrome case in Syria

Soubhi Tenawi1, Rawan Al Khudari1, Diana Alasmar2

  • 1Faculty of Medicine, Damascus University, Damascus, Syria.

Oxford Medical Case Reports
|June 2, 2020
PubMed

Insights

Warburg Micro syndrome, a rare genetic disorder, is caused by mutations in specific genes. This study identifies a new RAB3GAP1 gene mutation in a young boy, expanding our understanding of this condition.

Area of Science:

  • Genetics
  • Rare diseases
  • Ophthalmology

Background:

  • Warburg Micro syndrome is a rare autosomal recessive disorder.
  • It is associated with mutations in RAB3GAP1, RAB3GAP2, RAB18, and TBC1D20 genes.
  • Clinical features include optic abnormalities, neurological deficits, and hypogonadism.

Purpose of the Study:

  • To report a novel homozygous mutation in the RAB3GAP1 gene.
  • To describe the clinical presentation of a patient with Warburg Micro syndrome type 1.
  • To contribute to the genetic understanding of Warburg Micro syndrome.

Main Methods:

  • Whole exome sequencing (WES) was performed.
  • Genetic analysis identified a homozygous mutation in the RAB3GAP1 gene.
  • Clinical data was collected from a 7-month-old boy.

Main Results:

  • A novel homozygous mutation, c.2195del p.(Pro732Glnfs*6), was identified in exon 19 of the RAB3GAP1 gene.
  • The patient presented with bilateral congenital cataracts, hypogonadism, muscular hypotonia, and severe developmental delay.
  • The findings correlate with Warburg Micro syndrome type 1.

Conclusions:

  • A novel pathogenic mutation in RAB3GAP1 is associated with Warburg Micro syndrome type 1.
  • This discovery expands the known genetic variations causing Warburg Micro syndrome.
  • Further research can elucidate genotype-phenotype correlations in this rare condition.
Keywords:
RAB3GAP1Warburg Micro syndrome type 1Warburg syndromewhole-exome sequencing

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