A severe case of cardiospondylocarpofacial syndrome with a novel MAP3K7 variant-Reference-Cited by-同舟云学术

A severe case of cardiospondylocarpofacial syndrome with a novel MAP3K7 variant

Published:2024-02-22 Issue:1 Volume:11 Page:
ISSN:2054-345X
Container-title:Human Genome Variation
language:en
Short-container-title:Hum Genome Var

Author:

Nyuzuki Hiromi^ORCID,Ozawa Junichi,Nagasaki Keisuke^ORCID,Nishio Yosuke,Ogi Tomoo,Tohyama Jun^ORCID,Ikeuchi Takeshi^ORCID

Abstract

AbstractCardiospondylocarpofacial 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.

Publisher

Springer Science and Business Media LLC

Link

https://www.nature.com/articles/s41439-024-00265-0.pdf

Reference10 articles.

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