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[Genetic analysis and prenatal diagnosis for a Chinese pedigree affected with Spastic paraplegia type 56 due to variants of CYP2U1 gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 May 2026

Liu Qimeng, Hua Chunxiao, Li Kairun, Dong Zetian, Tan Lijun, Ren Xianjie, Wang Hongya, Sun Xinxin, Feng Ru, Wang Bing

Abstract excerpt

OBJECTIVE: To explore the genetic etiology for a Chinese family affected with Spastic paraplegia type 56 (SPG56). METHODS: Clinical data of the proband were collected. Peripheral blood samples were collected from the proband and her parents. Following extraction of genomic DNA, whole exome sequencing (WES) was carried out.Candidate variants were validated using Sanger sequencing, and prenatal diagnosis was...

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Identifiers

PMID: 42087733
DOI: 10.3760/cma.j.cn511374-20250415-00228

Genes

CYP2U1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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