Biallelic PDX1 (insulin promoter factor 1) mutations causing neonatal diabetes without exocrine pancreatic insufficiency

Diabetic Medicine

Volumn 30, Issue 5, 2013, Pages

  De Franco, E ^a   Shaw Smith, C ^a   Flanagan, S E ^a   Edghill, E L ^a   Wolf, J ^b   Otte, V ^b   Ebinger, F ^b   Varthakavi, P ^c   Vasanthi, T ^d   Edvardsson, S ^e   Hattersley, A T ^a   Ellard, S ^a  

^a UNIVERSITY OF EXETER MEDICAL SCHOOL   (United Kingdom)

^b St Vincenz Hospital   (Germany)

^c BYL NAIR CHARITABLE HOSPITAL   (India)

^d MEDICAL RESEARCH FOUNDATION   (India)

^e Centrallasarettet   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

HOMEODOMAIN PROTEIN; INSULIN; ANTIDIABETIC AGENT; PANCREATIC AND DUODENAL HOMEOBOX 1 PROTEIN; TRANSACTIVATOR PROTEIN;

AGENESIS; ALLELE; ARTICLE; COHORT ANALYSIS; DIABETES MELLITUS; FRAMESHIFT MUTATION; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; HETEROZYGOTE; HUMAN; HYPOPLASIA; INHERITANCE; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NEWBORN; NEWBORN DISEASE; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PANCREAS INSUFFICIENCY; PDX1 GENE; PROTEIN DOMAIN; RECESSIVE GENE; RECURRENCE RISK; SEQUENCE ANALYSIS; BLOOD; EXOCRINE GLAND; FEMALE; GENETICS; INFANT; INSULIN DEPENDENT DIABETES MELLITUS; PANCREAS; PANCREATIC DISEASES; PATHOPHYSIOLOGY;

DIABETES MELLITUS, TYPE 1; EXOCRINE GLANDS; FEMALE; HOMEODOMAIN PROTEINS; HUMANS; HYPOGLYCEMIC AGENTS; INFANT; INFANT, NEWBORN; INFANT, NEWBORN, DISEASES; INSULIN; MALE; MUTATION, MISSENSE; PANCREAS; PANCREATIC DISEASES; TRANS-ACTIVATORS;

EID: 84876395379     PISSN: 07423071     EISSN: 14645491     Source Type: Journal    
DOI: 10.1111/dme.12122     Document Type: Article

References (10)

1. Slingerland AS, Shields BM, Flanagan SE, Bruining GJ, Noordam K, Gach A et al. Referral rates for diagnostic testing support an incidence of permanent neonatal diabetes in three European countries of at least 1 in 260 000 live births. Diabetologia 2009; 52: 1683-1685.
2. Edghill EL, Flanagan SE, Ellard S. Permanent neonatal diabetes due to activating mutations in ABCC8 and KCNJ11. Rev Endocr Metab Disord 2010; 11: 193-198.
3. Sellick GS, Barker KT, Stolte-Dijkstra I, Fleischmann C, J Coleman R, Garrett C et al. Mutations in PTF1A cause pancreatic and cerebellar agenesis. Nat Genet 2004; 36: 1301-1305.
4. Schwitzgebel VM, Mamin A, Brun T, Ritz-Laser B, Zaiko M, Maret A et al. Agenesis of human pancreas due to decreased half-life of insulin promoter factor 1. J Clin Endocrinol Metab 2003; 88: 4398-4406.
5. Stoffers DA, Zinkin NT, Stanojevic V, Clarke WL, Habener JF. Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence. Nat Genet 1997; 15: 106-110.
6. Thomas IH, Saini NK, Adhikari A, Lee JM, Kasa-Vubu JZ, Vazquez DM et al. Neonatal diabetes mellitus with pancreatic agenesis in an infant with homozygous IPF-1 Pro63fsX60 mutation. Pediatr Diabetes 2009; 10: 492-496.
7. Lango Allen H, Flanagan SE, Shaw-Smith C, De Franco E, Akerman I, Caswell R et al. GATA6 haploinsufficiency causes pancreatic agenesis in humans. Nat Genet 2012; 44: 20-22.
8. Thomas MK, Devon ON, Lee JH, Peter A, Schlosser DA, Tenser MS et al. Development of diabetes mellitus in aging transgenic mice following suppression of pancreatic homeoprotein IDX-1. J Clin Invest 2001; 108: 319-329.
9. Nicolino M, Claiborn KC, Senee V, Boland A, Stoffers DA, Julier C. A novel hypomorphic PDX1 mutation responsible for permanent neonatal diabetes with subclinical exocrine deficiency. Diabetes 2010; 59: 733-740.
10. Edghill EL, Khamis A, Weedon MN, Walker M, Hitman GA, McCarthy MI et al. Sequencing PDX1 (insulin promoter factor 1) in 1788 UK individuals found 5% had a low frequency coding variant, but these variants are not associated with Type 2 diabetes. Diabet Med 2011; 28: 681-684.