Abstract
Aim: Warburg micro syndrome (WARBM) is a rare autosomal recessive disorder due to mutations
 in the RAB3GAP1, RAB3GAP2, RAB18, and TBC1D20 genes. The syndrome is characterized by
 microcephaly, ocular findings such as congenital cataract, microcornea, severe intellectual disability,
 and hypogonadism.
 Case: We present a 3-year-old boy who was diagnosed with WARBM during follow-up.The genetic
 analysis of the patient revealed a pathogenic mutation (c.259 260delinsCAC (p. Lys87HisfsTer42) in
 exon 3 of the TBC1D20 gene, which correlates with WARBM 4. Their parents were shown to carry the
 mutation heterozygously.
 Conclusion: The WES analysis of a consanguineous Turkish family with WARBM showed a novel
 mutation (c.259_260delinsCAC) in TBC1D20 gene that is most likely pathogenic and allowed us to
 make the diagnosis of WARBM.
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