Novel MMP20 and KLK4 Mutations in Amelogenesis Imperfecta
作者： F. Seymen , J.-C. Park , K.-E. Lee , H.-K. Lee , D.-S. Lee
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摘要: In order to achieve highly mineralized tooth enamel, enamel proteinases serve the important function of removing remaining organic matrix in mineralization and maturation matrix. Mutations kallikrein 4 (KLK4), enamelysin (MMP20), WDR72 genes have been identified as causing hypomaturation defects an autosomal-recessive hereditary pattern. this report, 2 consanguineous families with a hypomaturation-type defect were recruited, mutational analysis was performed determine molecular genetic etiology disease. Whole exome sequencing autozygosity mapping novel homozygous mutations KLK4 (c.620_621delCT, p.Ser207Trpfs*38) MMP20 (c.1054G>A, p.Glu352Lys) genes. Further on effect translation, secretion, revealed that mutant degraded intracellularly became inactive while expressed at normal level but secreted only minimally proteolytic function.
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