Report of Mucopolysaccharidosis Type VI Disorder in Pakistani Patients Presenting Two Novel ARSB Variants.
Bibi Zubaida, Hajira Batool, Huma Arshad Cheema et al.
✦ AI-curated · Sources linked
Case in brief
Two unrelated Pakistani patients were evaluated for mucopolysaccharidosis type VI (MPS-VI), an inherited disorder caused by deficient arylsulfatase B activity. Clinical assessment and biochemical findings supported the diagnosis. Sequencing of ARSB identified two novel variants: the 2-bp deletion NM_000046.5:c.511_512del and the missense variant NM_000046.5:c.166G>A. In silico analyses supported deleterious effects on protein function, consistent with the MPS-VI phenotype. The findings broaden the reported ARSB variant spectrum and may inform genetic counseling and prenatal diagnosis for affected families.
What made this case unusual
The report describes two novel ARSB variants in unrelated Pakistani patients, adding molecular findings from a population with limited prior clinical and genetic reporting of MPS-VI.
Diagnostic / clinical pearl
Because MPS-VI symptoms overlap with those of other mucopolysaccharidoses, diagnosis requires integrating clinical assessment with biochemical and molecular investigations.
Why it matters
Identifying disease-associated ARSB variants can support genetic counseling and prenatal diagnosis in affected families.