Van der Woude syndrome (VWS) (OMIM 119300) is a dominantly inherited, developmental disorder that is characterized by pits and/or sinuses of the lower lip and a cleft lip and/or cleft palate. Mutations in the interferon regulatory factor 6 gene (IRF6) have been recently identified in patients with VWS, with more than 60 mutations reported. However, the VWS phenotype, IRF6 mutation genotypes, and their interrelationships in Chinese VWS patients have not been studied. Here, we report 11 Chinese families with variable clinical phenotypes of VWS and identified mutations in all patients. Of the 11 mutations, 8 appeared to be novel: CC5.6GT, T342A, 566delA, C748T, C756A, C989A, C1209G, and 1316delT. Seven mutations caused a change or loss of the IRF6 domain. The marked phenotypic variation may be caused by the action of certain modifier genes on IRF6 function.
Four manganese(III) complexes (MnL 1 Cl, MnL 2 Cl, MnL 4 2 Cl, MnL 5 2 Cl) with a crowned salicylaldimine Schiff base ligand have been synthesized and employed as models to mimic hydrolase in the hydrolysis of p-nitrophenyl picolinate (PNPP). The kinetics and mechanism of catalytic PNPP hydrolysis have been investigated. The kinetic mathematical model of PNPP cleavage catalyzed by these complexes has been proposed. The effects of the ligand structure and crown ether ring in complexes, and the reactive temperature on the rate of catalytic PNPP hydrolysis have been also examined. The results show that compared with the crown-free analogous MnL 3 Cl and MnL 6 2 Cl, the crowned Schiff base manganese(III) complexes, MnL 1 Cl, MnL 2 Cl, MnL 4 2 Cl and MnL 5 2 Cl, exhibit more high catalytic activity, which follow the order: MnL 1 Cl >MnL 2 Cl >MnL 4 2 Cl >MnL 5 2 Cl >MnL 3 Cl >MnL 6 2 Cl; the pseudo-first-order-rate (k obs ) for the PNPP hydrolysis catalyzed by the complex MnL 1 Cl containing three crown ether rings is highest among six complexes and is 1.81 times that of MnL 3 Cl, 1.49 · 10 3 times that of spontaneous hydrolysis of PNPP, respectively, at pH = 7.00, [S] = 2.0 · 10 )4 mol dm )3 .
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