Missense mutations in CMS22 patients reveal that PREPL has both enzymatic and non-enzymatic functions
Yenthe Monnens,
Anastasia Theodoropoulou,
Karen Rosier
et al.
Abstract:Congenital myasthenic syndrome-22 (CMS22) is a rare genetic disorder caused by mutations in the prolyl endopeptidase-like (PREPL) gene. Since previous reports only described patients with deletions and nonsense mutations inPREPL, nothing is known about the effect of missense mutations in the pathology of CMS22. In this study, we have characterized missense mutations inPREPLin three CMS22 patients, all with hallmark phenotypes. Biochemical evaluation revealed that these missense mutations do not impair hydrolas… Show more
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