A severe case of cardiospondylocarpofacial syndrome with a novel MAP3K7 variant

Hiromi Nyuzuki; Junichi Ozawa; Keisuke Nagasaki; Yosuke Nishio; Tomoo Ogi; Jun Tohyama; Takeshi Ikeuchi

doi:10.1038/s41439-024-00265-0

A severe case of cardiospondylocarpofacial syndrome with a novel MAP3K7 variant

Hum Genome Var. 2024 Feb 22;11(1):8. doi: 10.1038/s41439-024-00265-0.

Authors

Hiromi Nyuzuki^{1

2}, Junichi Ozawa³, Keisuke Nagasaki³, Yosuke Nishio⁴, Tomoo Ogi⁵, Jun Tohyama^{6

7}, Takeshi Ikeuchi⁶

Affiliations

¹ Department of Pediatrics, Niigata University Medical and Dental Hospital, Niigata, Japan. nyuzuki@med.niigata-u.ac.jp.
² Center for Medical Genetics, Niigata University Medical and Dental Hospital, Niigata, Japan. nyuzuki@med.niigata-u.ac.jp.
³ Department of Pediatrics, Niigata University Medical and Dental Hospital, Niigata, Japan.
⁴ Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan.
⁵ Department of Genetics, Research Institute of Environmental Medicine (RIEM), Nagoya University, Nagoya, Japan.
⁶ Center for Medical Genetics, Niigata University Medical and Dental Hospital, Niigata, Japan.
⁷ Department of Child Neurology, National Hospital Organization Nishiniigata Chuo Hospital, Niigata, Japan.

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.