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Clinical Presentation and Genetic Heterogeneity Including Two Novel Variants in Sri Lankan Patients With Infantile Sandhoff Disease

Infantile Sandhoff Disease (iSD) is a subtype of GM2 gangliosidosis, which is never been reported in Sri Lanka. Data of eight children, who were diagnosed with iSD during the period of 2017 to 2021, were analyzed retrospectively. The aim of this study was to analyze genotypic and phenotypic variatio...

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Autores principales: Ozaal, Siddiqa, Jayasena, Subashinie, Jayakody, Surani, Schröder, Sabine, Jayawardana, Anura, Jasinge, Eresha
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9673506/
https://www.ncbi.nlm.nih.gov/pubmed/36407556
http://dx.doi.org/10.1177/2329048X221139495
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author Ozaal, Siddiqa
Jayasena, Subashinie
Jayakody, Surani
Schröder, Sabine
Jayawardana, Anura
Jasinge, Eresha
author_facet Ozaal, Siddiqa
Jayasena, Subashinie
Jayakody, Surani
Schröder, Sabine
Jayawardana, Anura
Jasinge, Eresha
author_sort Ozaal, Siddiqa
collection PubMed
description Infantile Sandhoff Disease (iSD) is a subtype of GM2 gangliosidosis, which is never been reported in Sri Lanka. Data of eight children, who were diagnosed with iSD during the period of 2017 to 2021, were analyzed retrospectively. The aim of this study was to analyze genotypic and phenotypic variations of native iSDs. Café-au-lait spots, mitral regurgitation and atrial septal defect were found in our patients but never reported in the literature. We found c.1417 + 5G>A and c.1303_1304insCT p.(Arg435Thrfs*10) novel variants of HEXB gene among the nine different gene mutations that were identified. The commonest HEXB gene variant identified in India was c.850 C4T (p.R284X) but was not noticed among Sri Lankan patients. In contrast to other studies, all our patients died within the age of two years. This is the first Sri Lankan study that expands the clinical and molecular basis of iSD with its novel findings.
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spelling pubmed-96735062022-11-19 Clinical Presentation and Genetic Heterogeneity Including Two Novel Variants in Sri Lankan Patients With Infantile Sandhoff Disease Ozaal, Siddiqa Jayasena, Subashinie Jayakody, Surani Schröder, Sabine Jayawardana, Anura Jasinge, Eresha Child Neurol Open Original Research Article Infantile Sandhoff Disease (iSD) is a subtype of GM2 gangliosidosis, which is never been reported in Sri Lanka. Data of eight children, who were diagnosed with iSD during the period of 2017 to 2021, were analyzed retrospectively. The aim of this study was to analyze genotypic and phenotypic variations of native iSDs. Café-au-lait spots, mitral regurgitation and atrial septal defect were found in our patients but never reported in the literature. We found c.1417 + 5G>A and c.1303_1304insCT p.(Arg435Thrfs*10) novel variants of HEXB gene among the nine different gene mutations that were identified. The commonest HEXB gene variant identified in India was c.850 C4T (p.R284X) but was not noticed among Sri Lankan patients. In contrast to other studies, all our patients died within the age of two years. This is the first Sri Lankan study that expands the clinical and molecular basis of iSD with its novel findings. SAGE Publications 2022-11-15 /pmc/articles/PMC9673506/ /pubmed/36407556 http://dx.doi.org/10.1177/2329048X221139495 Text en © The Author(s) 2022 https://creativecommons.org/licenses/by-nc/4.0/This article is distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 License (https://creativecommons.org/licenses/by-nc/4.0/) which permits non-commercial use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access page (https://us.sagepub.com/en-us/nam/open-access-at-sage).
spellingShingle Original Research Article
Ozaal, Siddiqa
Jayasena, Subashinie
Jayakody, Surani
Schröder, Sabine
Jayawardana, Anura
Jasinge, Eresha
Clinical Presentation and Genetic Heterogeneity Including Two Novel Variants in Sri Lankan Patients With Infantile Sandhoff Disease
title Clinical Presentation and Genetic Heterogeneity Including Two Novel Variants in Sri Lankan Patients With Infantile Sandhoff Disease
title_full Clinical Presentation and Genetic Heterogeneity Including Two Novel Variants in Sri Lankan Patients With Infantile Sandhoff Disease
title_fullStr Clinical Presentation and Genetic Heterogeneity Including Two Novel Variants in Sri Lankan Patients With Infantile Sandhoff Disease
title_full_unstemmed Clinical Presentation and Genetic Heterogeneity Including Two Novel Variants in Sri Lankan Patients With Infantile Sandhoff Disease
title_short Clinical Presentation and Genetic Heterogeneity Including Two Novel Variants in Sri Lankan Patients With Infantile Sandhoff Disease
title_sort clinical presentation and genetic heterogeneity including two novel variants in sri lankan patients with infantile sandhoff disease
topic Original Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9673506/
https://www.ncbi.nlm.nih.gov/pubmed/36407556
http://dx.doi.org/10.1177/2329048X221139495
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