Article
Identification and characterization of 20 novel pathogenic variants in 60 unrelated Indian patients with mucopolysaccharidoses type I and type II.
Clinical genetics - 1 Dec 2016
Uttarilli A, Ranganath P, Matta D, Md Nurul Jain J, Prasad K, Babu A S, Girisha K M, Verma I C, Phadke S R, Mandal K, Puri R D, Aggarwal S, Danda S, Sankar V H, Kapoor S, Bhat M, Gowrishankar K, Hasan A Q, Nair M, Nampoothiri S, Dalal A
Abstract excerpt
Mucopolysaccharidoses (MPS), a subgroup of lysosomal storage disorders, are caused due to deficiency of specific lysosomal enzyme involved in catabolism of glycosaminoglycans. To date more than 200 pathogenic variants in the alpha-l-iduronidase (IDUA) for MPS I and ∼500 pathogenic variants in the iduronate-2-sulphatase (IDS) for MPS II have been reported worldwide. The mutation spectrum of MPS type I and MPS type...
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