Recessive mutations in PCBD1 cause a new type of early-onset diabetes

Diabetes

Volumn 63, Issue 10, 2014, Pages 3557-3564

  Simaite, Deimante ^a   Kofent, Julia ^a   Gong, Maolian ^a   Rüschendorf, Franz ^a   Jia, Shiqi ^a   Arn, Pamela ^b   Bentler, Kristi ^c   Ellaway, Carolyn ^d   Kühnen, Peter ^e   Hoffmann, Georg F ^f   Blau, Nenad ^f,g   Spagnoli, Francesca M ^a   Hübner, Norbert ^a   Raile, Klemens ^a  

^a MAX DELBRÜCK CENTER FOR MOLECULAR MEDICINE   (Germany)

^b NEMOURS CHILDREN S CLINIC   (United States)

^c UNIVERSITY OF MINNESOTA   (United States)

^d CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^e CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^f UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^g UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

HEPATOCYTE NUCLEAR FACTOR 1ALPHA; INSULIN; PROTEIN; PTERIN 4 ALPHA CARBINOLAMINE DEHYDRATASE; SULFONYLUREA; UNCLASSIFIED DRUG; HYDROLYASE; PTERIN 4A CARBINOLAMINE DEHYDRATASE; PTERIN-4A-CARBINOLAMINE DEHYDRATASE;

ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CLINICAL ARTICLE; CONSANGUINITY; DATA BASE; DIABETES MELLITUS; EARLY ONSET DIABETES; EMBRYO; GENE DELETION; GENE MAPPING; GENE MUTATION; GENETIC VARIABILITY; HAPLOTYPE; HETEROZYGOTE; HUMAN; HYPERPHENYLALANINEMIA; LINKAGE ANALYSIS; MOUSE; NEWBORN SCREENING; NONHUMAN; PANCREAS ISLET BETA CELL; PHENYLKETONURIA; PROTEIN EXPRESSION; PROTEIN FUNCTION; PUBERTY; SINGLE NUCLEOTIDE POLYMORPHISM; ADOLESCENT; CHILD; FEMALE; GENETIC PREDISPOSITION; GENETICS; MALE; MUTATION; NON INSULIN DEPENDENT DIABETES MELLITUS; PEDIGREE;

ADOLESCENT; CHILD; DIABETES MELLITUS, TYPE 2; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; HYDRO-LYASES; MALE; MUTATION; PEDIGREE;

EID: 84907499888     PISSN: 00121797     EISSN: 1939327X     Source Type: Journal    
DOI: 10.2337/db13-1784     Document Type: Article

References (25)

1. American Diabetes Association. Diagnosis and classification of diabetes mellitus. Diabetes Care 2013;36(Suppl. 1):S67-S74
2. Morris AP, Voight BF, Teslovich TM, et al.; Wellcome Trust Case Control Consortium; Meta-Analyses of Glucose and Insulin-related traits Consortium (MAGIC) Investigators; Genetic Investigation of ANthropometric Traits (GIANT) Consortium. Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes. Nat Genet 2012;44:981-990
3. Ashcroft FM, Rorsman P. Diabetes mellitus and the β cell: the last ten years. Cell 2012;148:1160-1171
4. Ellard S, Lango Allen H, De Franco E, et al. Improved genetic testing for monogenic diabetes using targeted next-generation sequencing. Diabetologia 2013;56:1958-1963
5. Mendel DB, Khavari PA, Conley PB, et al. Characterization of a cofactor that regulates dimerization of a mammalian homeodomain protein. Science 1991; 254:1762-1767
6. Eizirik DL, Sammeth M, Bouckenooghe T, et al. The human pancreatic islet transcriptome: expression of candidate genes for type 1 diabetes and the impact of pro-inflammatory cytokines. PLoS Genet 2012;8:e1002552
7. Rodriguez-Seguel E, Mah N, Naumann H, et al. Mutually exclusive signaling signatures define the hepatic and pancreatic progenitor cell lineage divergence. Genes Dev 2013;27:1932-1946
8. Lindner TH, Njolstad PR, Horikawa Y, Bostad L, Bell GI, Sovik O. A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1 beta. Hum Mol Genet 1999;8:2001-2008.
9. Yamagata K, Oda N, Kaisaki PJ, et al. Mutations in the hepatocyte nuclear factor-1 alpha gene in maturity-onset diabetes of the young (M0DY3). Nature 1996;384:455-458
10. Citron BA, Davis MD, Milstien S, et al. Identity of 4a-carbinolamine dehydratase, a component of the phenylalanine hydroxylation system, and DCoH, a transregulator of homeodomain proteins. Proc Natl Acad Sci U S A 1992;89: 11891-11894
11. Thöny B, Neuheiser F, Kierat L, et al. Hyperphenylalaninemia with high levels of 7-biopterin is associated with mutations in the PCBD gene encoding the bifunctional protein pterin-4a-carbinolamine dehydratase and transcriptional coactivator (DCoH). Am J Hum Genet 1998;62:1302-1311
12. Thöny B, Neuheiser F, Kierat L, et al. Mutations in the pterin-4alpha-carbinolamine dehydratase (PCBD) gene cause a benign form of hyper-phenylalaninemia. Hum Genet 1998;103:162-167
13. Ferre S, de Baaij JH, Ferreira P, et al. Mutations in PCBD1 cause hypo-magnesemia and renal magnesium wasting. J Am Soc Nephrol 2014;25:574-586
14. Opladen T, Hoffmann GF, Blau N. An international survey of patients with tetrahydrobiopterin deficiencies presenting with hyperphenylalaninaemia. J Inherit Metab Dis 2012;35:963-973
15. Chalmers AD, Slack JM. The Xenopus tadpole gut: fate maps and morphogenetic movements. Development 2000;127:381-392
16. Bayle JH, Randazzo F, Johnen G, et al. Hyperphenylalaninemia and impaired glucose tolerance in mice lacking the bifunctional DCoH gene. J Biol Chem 2002; 277:28884-28891
17. Awa WL, Thon A, Raile K, et al.; DPV-Wiss. Study Group. Genetic and clinical characteristics of patients with HNF1A gene variations from the German-Austrian DPV database. Eur J Endocrinol 2011;164:513-520
18. Strandmann EP, Senkel S, Ryffel GU. The bifunctional protein DCoH/PCD, a transcription factor with a cytoplasmic enzymatic activity, is a maternal factor in the rat egg and expressed tissue specifically during embryogenesis. Int J Dev Biol 1998;42:53-59
19. Pogge yon Strandmann E, Ryffel GU. Developmental expression of the maternal protein XDCoH, the dimerization cofactor of the homeoprotein LFB1 (HNF1). Development 1995;121:1217-1226
20. Stanger BZ, Tanaka AJ, Melton DA. Organ size is limited by the number of embryonic progenitor cells in the pancreas but not the liver. Nature 2007;445: 886-891
21. Barbacci E, Reber M, Ott MO, Breillat C, Huetz F, Cereghini S. Variant hepatocyte nuclear factor 1 is required for visceral endoderm specification. Development 1999;126:4795-4805
22. Guo S, Dai C, Guo M, et al. Inactivation of specific β cell transcription factors in type 2 diabetes. J Clin Invest 2013;123:3305-3316
23. Shih DQ, Stoffel M. Dissecting the transcriptional network of pancreatic islets during development and differentiation. Proc Natl Acad Sci U S A 2001;98: 14189-14191
24. Servitja JM, Pignatelli M, Maestro MA, et al. Hnf1alpha (M0DY3) controls tissue-specific transcriptional programs and exerts opposed effects on cell growth in pancreatic islets and liver. Mol Cell Biol 2009;29:2945-2959
25. Spagnoli FM, Brivanlou AH. The Gata5 target, TGIF2, defines the pancreatic region by modulating BMP signals within the endoderm. Development 2008;135: 451-461