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...
| Main Authors: | , , , , , , , , , , |
|---|---|
| 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 |
| _version_ | 1818565482629824512 |
|---|---|
| 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 |
| 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 |
| collection | DOAJ |
| 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 |
| first_indexed | 2024-12-14T01:41:55Z |
| format | Article |
| id | doaj.art-ce091bbaf98a4623a68ab9d1e4fdc320 |
| institution | Directory Open Access Journal |
| issn | 2214-4269 |
| language | English |
| last_indexed | 2024-12-14T01:41:55Z |
| publishDate | 2018-06-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Molecular Genetics and Metabolism Reports |
| spelling | doaj.art-ce091bbaf98a4623a68ab9d1e4fdc3202022-12-21T23:21:43ZengElsevierMolecular 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 |
| 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 |
| title | 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_short | 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 |
| url | http://www.sciencedirect.com/science/article/pii/S2214426918300193 |
| work_keys_str_mv | AT jyotsnasingh anovelmutationinsgshcausingsanfillipotype3amucopolysaccharidosesinanindianfamily AT pkmuhammad anovelmutationinsgshcausingsanfillipotype3amucopolysaccharidosesinanindianfamily AT swetajain anovelmutationinsgshcausingsanfillipotype3amucopolysaccharidosesinanindianfamily AT aradhnamathur anovelmutationinsgshcausingsanfillipotype3amucopolysaccharidosesinanindianfamily AT shaistaparveen anovelmutationinsgshcausingsanfillipotype3amucopolysaccharidosesinanindianfamily AT aditijoshi anovelmutationinsgshcausingsanfillipotype3amucopolysaccharidosesinanindianfamily AT bharathramuppili anovelmutationinsgshcausingsanfillipotype3amucopolysaccharidosesinanindianfamily AT cvshaji anovelmutationinsgshcausingsanfillipotype3amucopolysaccharidosesinanindianfamily AT kakabeer anovelmutationinsgshcausingsanfillipotype3amucopolysaccharidosesinanindianfamily AT surajmenon anovelmutationinsgshcausingsanfillipotype3amucopolysaccharidosesinanindianfamily AT mohammedfaruq anovelmutationinsgshcausingsanfillipotype3amucopolysaccharidosesinanindianfamily AT jyotsnasingh novelmutationinsgshcausingsanfillipotype3amucopolysaccharidosesinanindianfamily AT pkmuhammad novelmutationinsgshcausingsanfillipotype3amucopolysaccharidosesinanindianfamily AT swetajain novelmutationinsgshcausingsanfillipotype3amucopolysaccharidosesinanindianfamily AT aradhnamathur novelmutationinsgshcausingsanfillipotype3amucopolysaccharidosesinanindianfamily AT shaistaparveen novelmutationinsgshcausingsanfillipotype3amucopolysaccharidosesinanindianfamily AT aditijoshi novelmutationinsgshcausingsanfillipotype3amucopolysaccharidosesinanindianfamily AT bharathramuppili novelmutationinsgshcausingsanfillipotype3amucopolysaccharidosesinanindianfamily AT cvshaji novelmutationinsgshcausingsanfillipotype3amucopolysaccharidosesinanindianfamily AT kakabeer novelmutationinsgshcausingsanfillipotype3amucopolysaccharidosesinanindianfamily AT surajmenon novelmutationinsgshcausingsanfillipotype3amucopolysaccharidosesinanindianfamily AT mohammedfaruq novelmutationinsgshcausingsanfillipotype3amucopolysaccharidosesinanindianfamily |