Unknown

Dataset Information

0

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


ABSTRACT: 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.

SUBMITTER: Singh J 

PROVIDER: S-EPMC6047218 | biostudies-literature | 2018 Jun

REPOSITORIES: biostudies-literature

altmetric image

Publications

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

Singh Jyotsna J   Muhammad P K PK   Jain Sweta S   Mathur Aradhna A   Parveen Shaista S   Joshi Aditi A   Uppili Bharathram B   Shaji C V CV   Kabeer K A KA   Menon Suraj S   Faruq Mohammed M  

Molecular genetics and metabolism reports 20180418


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 <i>SGSH</i>, <i>NAGLU</i>, <i>HGSNAT</i> and <i>GNS.</i> It allowed us to identify a novel and likely pathogenic variant p. G205R in <i>SGSH</i>. Protein based Inslico prediction and protein modelling suggests aberration of helical structure of SGSH protein a  ...[more]

Similar Datasets

| S-EPMC6314651 | biostudies-literature
| S-EPMC6293137 | biostudies-literature
| S-EPMC9873553 | biostudies-literature
| S-EPMC5198008 | biostudies-literature
| S-EPMC6335781 | biostudies-literature
| S-EPMC6978265 | biostudies-literature
| S-EPMC8059726 | biostudies-literature
| S-EPMC3656526 | biostudies-literature
| S-EPMC10789318 | biostudies-literature
| S-EPMC3557384 | biostudies-literature