Defects in the enamelin gene (ENAM) cause amelogenesis imperfecta (AI). Our objective was to identify the genetic etiology of enamel hypoplasia in a Caucasian proband. Our hypothesis was that ENAM was defective. The proband and his father have an AG insertion (g.13185_13186insAG; p.422FsX448) in ENAM previously identified in AI kindreds from Slovenia and Turkey. The proband, his brother, and his mother have a novel missense mutation (g.12573C>T) that substitutes leucine for a phosphorylated serine (p.S216L) in the 32-kDa enamelin cleavage product. In this family a defect in one ENAM allele caused minor pitting or localized enamel hypoplasia, whereas defects in both alleles caused severe enamel malformations, with little or no mineral covering dentin. Ser216 is one of two serines on the 32-kDa enamelin that is phosphorylated by Golgi casein kinase and is thought to mediate calcium binding. We propose that phosphorylation of enamelin is critical for its function.
* + 2NaOChHb (CH3h CH. CO. 0 C2 H5 und dass das entstandene Diketon unter dem Einflusse von Alkali das Natronsalz der Diisopropyloxalsaure lildet: (CH3)2CH. C 0 (CH3)oCH. C O >C. O H. COONa. (C H S)~. CH + N a O H = (CH&. CH. C O (CH3)2. CH e C O (CH3)a. CH Zu Gunsten einer solchen Auffassuog spricht zunachst die Angabe B r i i g g e m a n n ' s , der die Reaction von W o h l b r i i c k wiederholt hat, betreffend das Vorwalten der Ketone und Diketone in den Producten der Reaction. Uebrigans ist es eine lingst beknnnte Thatsacbe, dass die Diketone (freilich aber diejenigen der aroniatischen Reihe) bei der Einwirkung von Alkalien a-Oxysiiuren liefern.-K i e w , 31. August 1895. 480. A. H a n t z s c h und L. M a i : Ueber Imidokohlensaureiither ,und die sogen. normalen Cyanslureather. (Eingegangen am 5. October; mitgethoilt in der Sitznng von Hrn. S. Gabriel.) Diese bereits vor laogerer Zeit ausgafiihrte Untersuchung stellt eine Fortsetzung unserer Arbeit iiber Phenylimidokohlensaureather dar und hat in einem Punkte zu demselben Resultate gefiihrt, zu welchem J. u. Nef') in seiner inzwischcn publicirten grossen Arbeit uber die Cyanverbindungen gekommen ist; namlich, dass die von C l o e z 3, aua Chlorcyan und Natriumalkoholaten arigeblich erhaltenen normalen Cyansaurelther oder Cyanatholine, R O. C i N, aus der Literatiir z u streichen sind. Bei dieser Reaction entstehen in letzter Linie vor-1) Ann. d. Chem, 287, 310. a) Compt. rend. 44, 4S2; Ann. d. Chem. 102, 355.
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