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Identification of deletion-duplication in HEXA gene in five children with Tay-Sachs disease from India

BACKGROUND: Tay-Sachs disease (TSD) is a sphingolipid storage disorder caused by mutations in the HEXA gene. To date, nearly 170 mutations of HEXA have been described, including only one 7.6 kb large deletion. METHODS: Multiplex Ligation-dependent Probe Amplification (MLPA) study was carried out in...

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Autores principales: Sheth, Jayesh, Mistri, Mehul, Mahadevan, Lakshmi, Mehta, Sanjeev, Solanki, Dhaval, Kamate, Mahesh, Sheth, Frenny
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6032535/
https://www.ncbi.nlm.nih.gov/pubmed/29973161
http://dx.doi.org/10.1186/s12881-018-0632-7
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author Sheth, Jayesh
Mistri, Mehul
Mahadevan, Lakshmi
Mehta, Sanjeev
Solanki, Dhaval
Kamate, Mahesh
Sheth, Frenny
author_facet Sheth, Jayesh
Mistri, Mehul
Mahadevan, Lakshmi
Mehta, Sanjeev
Solanki, Dhaval
Kamate, Mahesh
Sheth, Frenny
author_sort Sheth, Jayesh
collection PubMed
description BACKGROUND: Tay-Sachs disease (TSD) is a sphingolipid storage disorder caused by mutations in the HEXA gene. To date, nearly 170 mutations of HEXA have been described, including only one 7.6 kb large deletion. METHODS: Multiplex Ligation-dependent Probe Amplification (MLPA) study was carried out in 5 unrelated patients for copy number changes where heterozygous and/or homozygous disease causing mutation/s could not be identified in the coding region by sequencing of HEXA gene. RESULTS: The study has identified the presence of a homozygous deletion of exon-2 and exon-3 in two patients, two patient showed compound heterozygosity with exon 1 deletion combined with missense mutation p.E462V and one patient was identified with duplication of exon-1 with novel variants c.1527-2A > T as a second allele. CONCLUSION: This is the first report of deletion/duplication in HEXA gene providing a new insight into the molecular basis of TSD and use of MLPA assay for detecting large copy number changes in the HEXA gene.
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spelling pubmed-60325352018-07-11 Identification of deletion-duplication in HEXA gene in five children with Tay-Sachs disease from India Sheth, Jayesh Mistri, Mehul Mahadevan, Lakshmi Mehta, Sanjeev Solanki, Dhaval Kamate, Mahesh Sheth, Frenny BMC Med Genet Research Article BACKGROUND: Tay-Sachs disease (TSD) is a sphingolipid storage disorder caused by mutations in the HEXA gene. To date, nearly 170 mutations of HEXA have been described, including only one 7.6 kb large deletion. METHODS: Multiplex Ligation-dependent Probe Amplification (MLPA) study was carried out in 5 unrelated patients for copy number changes where heterozygous and/or homozygous disease causing mutation/s could not be identified in the coding region by sequencing of HEXA gene. RESULTS: The study has identified the presence of a homozygous deletion of exon-2 and exon-3 in two patients, two patient showed compound heterozygosity with exon 1 deletion combined with missense mutation p.E462V and one patient was identified with duplication of exon-1 with novel variants c.1527-2A > T as a second allele. CONCLUSION: This is the first report of deletion/duplication in HEXA gene providing a new insight into the molecular basis of TSD and use of MLPA assay for detecting large copy number changes in the HEXA gene. BioMed Central 2018-07-04 /pmc/articles/PMC6032535/ /pubmed/29973161 http://dx.doi.org/10.1186/s12881-018-0632-7 Text en © The Author(s). 2018 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Research Article
Sheth, Jayesh
Mistri, Mehul
Mahadevan, Lakshmi
Mehta, Sanjeev
Solanki, Dhaval
Kamate, Mahesh
Sheth, Frenny
Identification of deletion-duplication in HEXA gene in five children with Tay-Sachs disease from India
title Identification of deletion-duplication in HEXA gene in five children with Tay-Sachs disease from India
title_full Identification of deletion-duplication in HEXA gene in five children with Tay-Sachs disease from India
title_fullStr Identification of deletion-duplication in HEXA gene in five children with Tay-Sachs disease from India
title_full_unstemmed Identification of deletion-duplication in HEXA gene in five children with Tay-Sachs disease from India
title_short Identification of deletion-duplication in HEXA gene in five children with Tay-Sachs disease from India
title_sort identification of deletion-duplication in hexa gene in five children with tay-sachs disease from india
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6032535/
https://www.ncbi.nlm.nih.gov/pubmed/29973161
http://dx.doi.org/10.1186/s12881-018-0632-7
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