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Published on: August 20, 2019
A severe case of cardiospondylocarpofacial syndrome with a novel MAP3K7 variant
Hiromi Nyuzuki1,2, Junichi Ozawa3, Keisuke Nagasaki3
1Department of Pediatrics, Niigata University Medical and Dental Hospital, Niigata, Japan. nyuzuki@med.niigata-u.ac.jp.
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.
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