STRs database » GLS locus
Overview of repeats
The role of tandem repeats in the GLS gene was discovered in three unrelated patients of glutaminase deficiency (GD) disease, carrying either 680, 900 or 1500 CAG repeats in the GLS gene. In the majority of controls, the repeat length varied from 5 to 26 repeats (van Kuilenburg et al. (2019)).
Fazal et al. (2023) identified two additional families with glutaminase deficiency. In one family, the homozygous repeat expansion was nested within a tandem quadruplication of the 5′ UTR. The affected individuals had progressive early-onset ataxia, cognitive deficits, pyramidal tract involvement and optic atrophy, and biochemical testing supported glutaminase deficiency.