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A case of Sandhoff disease caused by a novel β-hexosaminidase B (HEXB) mutation c.118delG (p.A40fs*24): A case report from China.

Medicine - 16 Jun 2023

Xie Hongyan, Lin Shuangzhu, Chen Yang, Wang Wanqi, Qi Yangfan, Li Jiayi, Chen Qiandui, Feng Xiaochun

Abstract excerpt

BACKGROUND: Sandhoff disease (SD, Online Mendelian Inheritance in Man: 268800) is an autosomal recessive lysosomal storage disorder caused by variants of the β-hexosaminidase B (HEXB) gene (Online Mendelian Inheritance in Man: 606873). The HEXB gene has been mapped to chromosome 5q13 and contains 14 exons. The symptoms of SD include progressive weakness, intellectual disability, visual and hearing impairment,...

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Identifiers

PMID: 37327298
DOI: 10.1097/MD.0000000000033890
PMCID: PMC10270510

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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