ArticleMetabolic brain disease2016
Clinical,biochemical and molecular analysis of five Chinese patients with Sandhoff disease.
Article in Metabolic brain disease, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 12 citations in OpenAlex.
- Sandhoff Disease Associated With Bipolar Disorder: A Case Report From the United Arab Emirates.Cureus · 2026Article
- Genetic variant reanalysis reveals a case of Sandhoff disease with onset of infantile epileptic spasm syndrome.Acta epileptologica · 2024Article
- Clinical and genetic features of a case with juvenile onset sandhoff disease.BMC neurology · 2023Article
- Infantile onset Sandhoff disease: clinical manifestation and a novel common mutation in Thai patients.BMC pediatrics · 2021Article
- Clinical and Molecular Characteristics of Two Chinese Children with Infantile Sandhoff Disease and Review of the Literature.Journal of molecular neuroscience : MN · 2020Review
- Genotype-phenotype correlation of gangliosidosis mutations using in silico tools and homology modeling.Molecular genetics and metabolism reports · 2019Article
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Authors and funding
9 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Sandhoff disease (SD) is a rare autosomal recessive lysosomal storage disorder of sphingolipid metabolism resulting from the deficiency of β-hexosaminidase (HEX). Mutations of the HEXB gene cause Sandhoff disease. In order to improve the diagnosis and expand the knowledge of the disease, we collected and analyzed relevant data of clinical diagnosis, biochemical investigation, and molecular mutational analysis in five Chinese patients with SD. The patients presented with heterogenous symptoms of neurologic deterioration. HEX activity in leukocytes was severely deficient. We identified seven different mutations, including three known mutations: IVS12-26G > A, p.T209I, p.I207V, and four novel mutations: p.P468PfsX62, p.L223P, p.Y463X, p.G549R. We also detected two different heterozygous mutations c.-122delC and c.-126C > T in the promoter which were suspected to be deleterious mutations. We attempted to correlate these mutations with the clinical presentation of the patients. Our study indicates that the mutation p.T209I and p.P468PfsX62 may link to the infantile form of SD. Our study expands the spectrum of genotype of SD in China, provides new insights into the molecular mechanism of SD and helps to the diagnosis and treatment of this disease.
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