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

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

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 no...

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Main Authors: Jyotsna Singh, P.K. Muhammad, Sweta Jain, Aradhna Mathur, Shaista Parveen, Aditi Joshi, Bharathram Uppili, C.V. Shaji, K.A. Kabeer, Suraj Menon, Mohammed Faruq
Format: Article
Language:English
Published: Elsevier 2018-06-01
Series:Molecular Genetics and Metabolism Reports
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426918300193
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spelling doaj-ce091bbaf98a4623a68ab9d1e4fdc3202020-11-25T01:07:19ZengElsevierMolecular Genetics and Metabolism Reports2214-42692018-06-0115124126A novel mutation in SGSH causing Sanfillipo type 3A Mucopolysaccharidoses in an Indian familyJyotsna Singh0P.K. Muhammad1Sweta Jain2Aradhna Mathur3Shaista Parveen4Aditi Joshi5Bharathram Uppili6C.V. Shaji7K.A. Kabeer8Suraj Menon9Mohammed Faruq10Genomics and Molecular Medicine, CSIR-Institute of Genomics and Integrative Biology, Mall Road, New Delhi, IndiaDepartment of Neurology, TD Medical College, Alappuzha, Kerala, IndiaGenomics and Molecular Medicine, CSIR-Institute of Genomics and Integrative Biology, Mall Road, New Delhi, IndiaGenomics and Molecular Medicine, CSIR-Institute of Genomics and Integrative Biology, Mall Road, New Delhi, IndiaGenomics and Molecular Medicine, CSIR-Institute of Genomics and Integrative Biology, Mall Road, New Delhi, IndiaGenomics and Molecular Medicine, CSIR-Institute of Genomics and Integrative Biology, Mall Road, New Delhi, IndiaGenomics and Molecular Medicine, CSIR-Institute of Genomics and Integrative Biology, Mall Road, New Delhi, IndiaDepartment of Neurology, TD Medical College, Alappuzha, Kerala, IndiaDepartment of Neurology, TD Medical College, Alappuzha, Kerala, IndiaDepartment of Neurology, TD Medical College, Alappuzha, Kerala, IndiaGenomics and Molecular Medicine, CSIR-Institute of Genomics and Integrative Biology, Mall Road, New Delhi, India; Corresponding author.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. Keywords: Mucopolysaccharidoses, Sanfillipo syndrome, SGSHhttp://www.sciencedirect.com/science/article/pii/S2214426918300193
collection DOAJ
language English
format Article
sources DOAJ
author Jyotsna Singh
P.K. Muhammad
Sweta Jain
Aradhna Mathur
Shaista Parveen
Aditi Joshi
Bharathram Uppili
C.V. Shaji
K.A. Kabeer
Suraj Menon
Mohammed Faruq
spellingShingle Jyotsna Singh
P.K. Muhammad
Sweta Jain
Aradhna Mathur
Shaista Parveen
Aditi Joshi
Bharathram Uppili
C.V. Shaji
K.A. Kabeer
Suraj Menon
Mohammed Faruq
A novel mutation in SGSH causing Sanfillipo type 3A Mucopolysaccharidoses in an Indian family
Molecular Genetics and Metabolism Reports
author_facet Jyotsna Singh
P.K. Muhammad
Sweta Jain
Aradhna Mathur
Shaista Parveen
Aditi Joshi
Bharathram Uppili
C.V. Shaji
K.A. Kabeer
Suraj Menon
Mohammed Faruq
author_sort Jyotsna Singh
title A novel mutation in SGSH causing Sanfillipo type 3A Mucopolysaccharidoses in an Indian family
title_short A novel mutation in SGSH causing Sanfillipo type 3A Mucopolysaccharidoses in an Indian family
title_full A novel mutation in SGSH causing Sanfillipo type 3A Mucopolysaccharidoses in an Indian family
title_fullStr A novel mutation in SGSH causing Sanfillipo type 3A Mucopolysaccharidoses in an Indian family
title_full_unstemmed A novel mutation in SGSH causing Sanfillipo type 3A Mucopolysaccharidoses in an Indian family
title_sort novel mutation in sgsh causing sanfillipo type 3a mucopolysaccharidoses in an indian family
publisher Elsevier
series Molecular Genetics and Metabolism Reports
issn 2214-4269
publishDate 2018-06-01
description 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. Keywords: Mucopolysaccharidoses, Sanfillipo syndrome, SGSH
url http://www.sciencedirect.com/science/article/pii/S2214426918300193
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