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Article

Novel compound heterozygous mutations of the NPC1 gene associated with Niemann-pick disease type C: a case report and review of the literature.

BMC infectious diseases - 30 Jan 2024

Tao Chaoxin, Zhao Min, Zhang Xiaohui, Hao Jihong, Huo Qiuyue, Sun Jie, Xing Jiangtao, Zhang Yuna, Zhao Jianhong, Huang Huaipeng

Abstract excerpt

BACKGROUND: Niemann-Pick Disease type C is a fatal autosomal recessive lipid storage disorder caused by NPC1 or NPC2 gene mutations and characterized by progressive, disabling neurological deterioration and hepatosplenomegaly. Herein, we identified a novel compound heterozygous mutations of the NPC1 gene in a Chinese pedigree. CASE PRESENTATION: This paper describes an 11-year-old boy with aggravated walking...

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Identifiers

PMID: 38291356
DOI: 10.1186/s12879-024-09025-5
PMCID: PMC10826013

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