一例患有新型 MAP3K7 变异的心软骨畸形面容综合征重症病例

IF 1 Q4 GENETICS & HEREDITY Human Genome Variation Pub Date : 2024-02-22 DOI:10.1038/s41439-024-00265-0

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

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摘要

心脊柱髋面综合征（CSCFS）是一种先天性畸形，其特征是生长发育迟缓、面部特征、短趾伴腕骨和跗骨融合、广泛的颈椎后融合、先天性心脏病和耳聋。在此，我们报告了一例严重的 CSCFS 病例，该病例的 MAP3K7 存在新型变异 p.Thr187Ile。Thr187 是 MAP3K7 所编码的 TGF-beta 激活激酶 1 的主要磷酸化位点，该变异可能会导致下游信号转导的严重异常。

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A severe case of cardiospondylocarpofacial syndrome with a novel MAP3K7 variant

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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