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Mutation of Solute Carrier SLC16A12 Associates with a Syndrome Combining Juvenile Cataract with Microcornea and Renal Glucosuria  Barbara Kloeckener-Gruissem,

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Presentation on theme: "Mutation of Solute Carrier SLC16A12 Associates with a Syndrome Combining Juvenile Cataract with Microcornea and Renal Glucosuria  Barbara Kloeckener-Gruissem,"— Presentation transcript:

1 Mutation of Solute Carrier SLC16A12 Associates with a Syndrome Combining Juvenile Cataract with Microcornea and Renal Glucosuria  Barbara Kloeckener-Gruissem, Kristof Vandekerckhove, Gudrun Nürnberg, John Neidhardt, Christina Zeitz, Peter Nürnberg, Isaak Schipper, Wolfgang Berger  The American Journal of Human Genetics  Volume 82, Issue 3, Pages (March 2008) DOI: /j.ajhg Copyright © 2008 The American Society of Human Genetics Terms and Conditions

2 Figure 1 Pedigree of Swiss Family Segregating Juvenile Cataract with Microcornea and Glucosuria Modified after Vandekerckhove et al.7 Filled symbols represent affected status for all three phenotypes, with three exceptions indicated by star; III-1 and III-2 are negative and III-5 is borderline for glucosuria (Table 1). Five-digit laboratory identification numbers (given below pedigree symbols) were assigned prior to DNA extraction. Family members IV-2 and IV-3 were not tested for any of the three phenotypes. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2008 The American Society of Human Genetics Terms and Conditions

3 Figure 2 Cataract and Microcornea Phenotype of Patient III-5
Preoperative cortico-nuclear cataract in right eye is shown in (A) and microcornea (9.8 × 9.5 mm) in (B). The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2008 The American Society of Human Genetics Terms and Conditions

4 Figure 3 LOD Scores across the Genome for the Phenotype of Cataract with Microcornea Chromosome number and genetic distances in cM (centi Morgan) is horizontally displayed; LOD score is given along the vertical axis. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2008 The American Society of Human Genetics Terms and Conditions

5 Figure 4 Haplotypes for the Cataract-Linked Region on Chromosome 10
Recombinations in patients (III-4) and (IV-1) define a critical interval of 2.6 Mega bases (Mb) delimited by markers SNP_A_ (rs701826) (∗) and SNP_A_ (rs ) (∗∗) at positions and cM, respectively. Disease chromosome in red. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2008 The American Society of Human Genetics Terms and Conditions

6 Figure 5 Mutation Screening in SCL16A12
Electropherogram shows the mutation in exon 6 within the context of 21 nucleotides. Shown are both the DNA sequence of the unaffected individual III-9 (A) and the heterozygous change of C→T (Y) in the affected individual III- 8 (B). The genotypes are given in brackets. Translation codons are underlined and amino acid identity is written below with single letter code. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2008 The American Society of Human Genetics Terms and Conditions

7 Figure 6 Expression Studies of SLC16A12
(A) Schematic representation of exons. Protein coding regions are displayed in darker shade. Translation initiates within exon 3 (vertical arrow, ATG) and terminates within exon 8 (vertical arrow, STOP). Mutation, c.643C→T, in exon 6 (vertical arrow) is predicted to lead to a premature termination. Positions of primers are indicated by forward and reverse horizontal arrows, yielding RT-PCR product a (exon spanning 4_5 to exon 6) and product b (exon 3 to exon 5). (B) RT-PCR analyses from human tissues with commercially available mRNA. Primers to yield product a were used to amplify SLC16A12 transcripts. RNA Polymerase II (POLR2A) transcripts served as endogenous control. (C) RT-PCR analysis from tissues isolated from a single human donor eye. Primers to yield product b of SLC16A12 and of POLR2A (control) were used for amplification. Lens RNA was 3-fold concentrated compared to the other samples. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2008 The American Society of Human Genetics Terms and Conditions

8 Figure 7 Schematic Representation of the Predicted Secondary Structure of SLC16A12 Prediction of membrane topology revealed a 536 amino acid protein with 12 transmembrane domains separated by intra- and extracellular domains of varying lengths with both termini (NH2 and COOH) located intracellularly. Amino acid glutamin (Gln, Q) at position 215 is mutated to a stop in the patients described herein (red circle). The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2008 The American Society of Human Genetics Terms and Conditions

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