A novel mutation in SGSH causing Sanfillipo type 3A Mucopolysaccharidoses in an Indian family

摘要

Mucopolysaccharidoses (MPS) type III also termed as Sanfillipo syndrome, involves defect in enzymes required for degradation of heparan sulphate. We report a clinical case of MPS-III later followed by genetic investigation for MPS-III genes SGSH , NAGLU , HGSNAT and GNS. It allowed us to identify a novel and likely pathogenic variant p. G205R in SGSH . Protein based Inslico prediction and protein modelling suggests aberration of helical structure of SGSH protein and reduced binding affinity for its substrate.