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A severe case of cardiospondylocarpofacial syndrome with a novel MAP3K7 variant.

ABSTRACT: Cardiospondylocarpofacial syndrome (CSCFS) is a congenital malformation characterized by growth retardation, facial features, short toes with carpal and tarsal fusion, extensive posterior neck vertebral fusion, congenital heart disease, and deafness. Here, we report a severe case of CSCFS with a novel variant, p.Thr187Ile, in MAP3K7. Thr187 is the main phosphorylation site for TGF-beta-activated kinase 1 encoded by MAP3K7, and this variant may cause significant abnormalities in downstream signaling.

SUBMITTER: Nyuzuki H

PROVIDER: S-EPMC10881960 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature

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A severe case of cardiospondylocarpofacial syndrome with a novel MAP3K7 variant.

Nyuzuki Hiromi H Ozawa Junichi J Nagasaki Keisuke K Nishio Yosuke Y Ogi Tomoo T Tohyama Jun J Ikeuchi Takeshi T

Human genome variation 20240222 1

Cardiospondylocarpofacial syndrome (CSCFS) is a congenital malformation characterized by growth retardation, facial features, short toes with carpal and tarsal fusion, extensive posterior neck vertebral fusion, congenital heart disease, and deafness. Here, we report a severe case of CSCFS with a novel variant, p.Thr187Ile, in MAP3K7. Thr187 is the main phosphorylation site for TGF-beta-activated kinase 1 encoded by MAP3K7, and this variant may cause significant abnormalities in downstream signal ...[more]

PMID: 38383446

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