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A Novel MAP3K7 Variant Causing Loss of Function Identified in a Family With Cardiospondylocarpofacial Syndrome: Functional Validation and Molecular Insights.

Human mutation - 1 Jan 2026

Zhu Ting, Shi Jiamin, Li Jia, Zhou Tingmin, Fu Xinru, Xu Fengzhen, Gu Chuangjie, Wang Danping, Wu Ruiting, Liu Li, Shen Jingling, Wang Dan

Abstract excerpt

Mitogen-activated protein kinase kinase kinase 7 (MAP3K7), also known as transforming growth factor-β-activated kinase 1 (TAK1), is a widely expressed kinase that plays a crucial role in various cellular processes variants in the MAP3K7 gene have been implicated in two distinct genetic disorders: frontometaphyseal dysplasia Type 2 (FMD2) and cardiofaciocutaneous syndrome (CSCF). To elucidate the consequences of...

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Identifiers

PMID: 42040894
DOI: 10.1155/humu/8024677
PMCID: PMC13107117

Genes

MAP3K7

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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A Novel MAP3K7 Variant Causing Loss of Function Identified in a Family With Cardiospondylocarpofacial Syndrome: Functional Validation and Molecular Insights.PMID 42040894Read ↗

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A novel MAP3K7 splice mutation causes cardiospondylocarpofacial syndrome with features of hereditary connective tissue disorder.Semantic proximity Read ↗

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