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Article

Unique three-site compound heterozygous mutation in the WFS1 gene in Wolfram syndrome.

BMC endocrine disorders - 17 Aug 2021

Ren Ziyu, Yi Jixiu, Zhong Min, Wang Yunting, Liu Qicong, Wang Xuan, Liu Dongfang, Ren Wei

Abstract excerpt

BACKGROUND: Wolfram syndrome (WFS) is a rare autosomal recessive genetic disease whose main cause is mutations in the WFS1 and CISD2 genes. Its characteristic clinical manifestations are diabetes insipidus, diabetes mellitus, optic atrophy and deafness. METHODS: In this study, two patients from this particular family underwent complete routine biochemical and ophthalmic tests. Blood, urine, routine stool test,...

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Identifiers

PMID: 34404380
DOI: 10.1186/s12902-021-00823-5
PMCID: PMC8369721

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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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