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New kinase-deficient PAK2 variants associated with Knobloch syndrome type 2

RE. Schnur, L. Dvořáček, L. Kalsner, FL. Shapiro, D. Grebeňová, D. Yanni, BN. Wasserman, VIGOR, LM. Dyer, SE. Antonarakis, K. Kuželová

. 2024 ; 106 (4) : 518-524. [pub] 20240618

Jazyk angličtina Země Dánsko

Typ dokumentu časopisecké články, kazuistiky

Perzistentní odkaz   https://www.medvik.cz/link/bmc24018802

Grantová podpora
00023736 Ministry of Health, Czech Republic

The p21-activated kinase (PAK) family of proteins regulates various processes requiring dynamic cytoskeleton organization such as cell adhesion, migration, proliferation, and apoptosis. Among the six members of the protein family, PAK2 is specifically involved in apoptosis, angiogenesis, or the development of endothelial cells. We report a novel de novo heterozygous missense PAK2 variant, p.(Thr406Met), found in a newborn with clinical manifestations of Knobloch syndrome. In vitro experiments indicated that this and another reported variant, p.(Asp425Asn), result in substantially impaired protein kinase activity. Similar findings were described previously for the PAK2 p.(Glu435Lys) variant found in two siblings with proposed Knobloch syndrome type 2 (KNO2). These new variants support the association of PAK2 kinase deficiency with a second, autosomal dominant form of Knobloch syndrome: KNO2.

Citace poskytuje Crossref.org

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