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Identification of Mutations in SLC24A4, Encoding a Potassium-Dependent Sodium/Calcium Exchanger, as a Cause of Amelogenesis Imperfecta  David A. Parry,

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Presentation on theme: "Identification of Mutations in SLC24A4, Encoding a Potassium-Dependent Sodium/Calcium Exchanger, as a Cause of Amelogenesis Imperfecta  David A. Parry,"— Presentation transcript:

1 Identification of Mutations in SLC24A4, Encoding a Potassium-Dependent Sodium/Calcium Exchanger, as a Cause of Amelogenesis Imperfecta  David A. Parry, James A. Poulter, Clare V. Logan, Steven J. Brookes, Hussain Jafri, Christopher H. Ferguson, Babra M. Anwari, Yasmin Rashid, Haiqing Zhao, Colin A. Johnson, Chris F. Inglehearn, Alan J. Mighell  The American Journal of Human Genetics  Volume 92, Issue 2, Pages (February 2013) DOI: /j.ajhg Copyright © 2013 The American Society of Human Genetics Terms and Conditions

2 Figure 1 Clinical Dental Phenotypes Due to SLC24A Mutations
(A–C) Family AI-112 from Pakistan. The heterozygous (carrier) (III.2 in Figure 2) has teeth with a normal appearance (A) that contrasts with the yellow-brown discoloration and increased opacity of the enamel observed in her niece with erupted permanent teeth (B) (IV.5 in Figure 2). The enamel volume is within normal limits in all teeth with normal crown morphology and cusp patterns evident in the teeth illustrated (C) (IV.6), although affected teeth are susceptible to premature enamel loss. (D) Family AI-131 from Pakistan. The appearances of the affected teeth are similar to those for AI-112 as illustrated in individual IV.4 in Figure 2 with posteruptive changes leading to premature enamel loss. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2013 The American Society of Human Genetics Terms and Conditions

3 Figure 2 Family Pedigrees and SLC24A4 Mutations
(A) Pedigrees of families AI-112 and AI-131. (B) Representative electropherograms of SLC24A4 mutations discovered in family AI-112 and AI-131. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2013 The American Society of Human Genetics Terms and Conditions

4 Figure 3 Structure of SLC24A4 and the Encoded Protein
(A) The three human RefSeq SLC24A4 transcripts are shown with the position of mutations discovered in AI-112 and AI-131 marked. (B) Predicted topology of full-length SLC24A4 (corresponding to transcript NM_ ) as generated by the TMHMM38 program and drawn using TOPO2. Altered residues corresponding to residues affected by SLC24A4 mutations in family AI-112 and AI-131 are shown in red. The conserved alpha repeats which form the ion binding pockets of the transporter are shown in blue and green. The extracellular membrane is shown in gray. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2013 The American Society of Human Genetics Terms and Conditions

5 Figure 4 Scanning Electron Microscopy of Mandibular Incisors from Wild-Type and Slc24a4 Knockout Mice (A) SEM shows the typical mouse incisor morphology of a wild-type mouse where the labial surface of the tooth is completely covered with a smooth layer of enamel. The incisal tip shows the characteristic chisel-like biting edge characteristic of rodents. (B) Higher magnification of the boxed area in (A) showing the smooth unbroken enamel surface. (C) SEM of the incisor from a Slc24a4 knockout mouse. Enamel is only present near the cervical margin where the tooth erupts from the mandibular bone. Enamel is missing from the remainder of the tooth (reflecting premature failure) and the underlying dentine surface is exposed. The incisal tip, comprising only softer dentine, is blunted. (D) Higher magnification of the boxed area in (C) showing the affected enamel to be irregular and poorly mineralized compared to wild-type enamel. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2013 The American Society of Human Genetics Terms and Conditions

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