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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Autores principales: Singh, Jyotsna, Muhammad, P.K., Jain, Sweta, Mathur, Aradhna, Parveen, Shaista, Joshi, Aditi, Uppili, Bharathram, Shaji, C.V., Kabeer, K.A., Menon, Suraj, Faruq, Mohammed
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2018
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6047218/
https://www.ncbi.nlm.nih.gov/pubmed/30023302
http://dx.doi.org/10.1016/j.ymgmr.2018.04.003
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author Singh, Jyotsna
Muhammad, P.K.
Jain, Sweta
Mathur, Aradhna
Parveen, Shaista
Joshi, Aditi
Uppili, Bharathram
Shaji, C.V.
Kabeer, K.A.
Menon, Suraj
Faruq, Mohammed
author_facet Singh, Jyotsna
Muhammad, P.K.
Jain, Sweta
Mathur, Aradhna
Parveen, Shaista
Joshi, Aditi
Uppili, Bharathram
Shaji, C.V.
Kabeer, K.A.
Menon, Suraj
Faruq, Mohammed
author_sort Singh, Jyotsna
collection PubMed
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.
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spelling pubmed-60472182018-07-18 A novel mutation in SGSH causing Sanfillipo type 3A Mucopolysaccharidoses in an Indian family Singh, Jyotsna Muhammad, P.K. Jain, Sweta Mathur, Aradhna Parveen, Shaista Joshi, Aditi Uppili, Bharathram Shaji, C.V. Kabeer, K.A. Menon, Suraj Faruq, Mohammed Mol Genet Metab Rep Short Communication 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. Elsevier 2018-04-18 /pmc/articles/PMC6047218/ /pubmed/30023302 http://dx.doi.org/10.1016/j.ymgmr.2018.04.003 Text en © 2018 Published by Elsevier Inc. http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Short Communication
Singh, Jyotsna
Muhammad, P.K.
Jain, Sweta
Mathur, Aradhna
Parveen, Shaista
Joshi, Aditi
Uppili, Bharathram
Shaji, C.V.
Kabeer, K.A.
Menon, Suraj
Faruq, Mohammed
A novel mutation in SGSH causing Sanfillipo type 3A Mucopolysaccharidoses in an Indian family
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
topic Short Communication
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6047218/
https://www.ncbi.nlm.nih.gov/pubmed/30023302
http://dx.doi.org/10.1016/j.ymgmr.2018.04.003
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