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01-08-2016 | Original Article

Clinical,biochemical and molecular analysis of five Chinese patients with Sandhoff disease

Authors: Wen Zhang, Huasong Zeng, Yonglan Huang, Ting Xie, Jipeng Zheng, Xiaoyuan Zhao, Huiying Sheng, Hongsheng Liu, Li Liu

Published in: Metabolic Brain Disease | Issue 4/2016

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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Title: Clinical,biochemical and molecular analysis of five Chinese patients with Sandhoff disease
Authors: Wen Zhang
Huasong Zeng
Yonglan Huang
Ting Xie
Jipeng Zheng
Xiaoyuan Zhao
Huiying Sheng
Hongsheng Liu
Li Liu
Publication date: 01-08-2016
Publisher: Springer US
Published in: Metabolic Brain Disease / Issue 4/2016
Print ISSN: 0885-7490
Electronic ISSN: 1573-7365
DOI: https://doi.org/10.1007/s11011-016-9819-9

At a glance: The STEP trials

Springer Medicine

Clinical,biochemical and molecular analysis of five Chinese patients with Sandhoff disease

Abstract

At a glance: The STEP trials

Springer Medicine

Abstract

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