Novel GATA6 mutations in patients with pancreatic agenesis and congenital heart malformations

PLoS ONE

Volumn 10, Issue 2, 2015, Pages

  Chao, Christina S ^a   McKnight, Kristen D ^a   Cox, Kenneth L ^a   Chang, Anne L ^a   Kim, Seung K ^a   Feldman, Brian J ^a  

^a STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PANCREAS ENZYME; TRANSCRIPTION FACTOR GATA 6; GATA6 PROTEIN, HUMAN;

AGENESIS; ALTERNATIVE RNA SPLICING; ANEMIA; ARTICLE; BASE PAIRING; CASE REPORT; COMPUTER ASSISTED TOMOGRAPHY; CONGENITAL HEART MALFORMATION; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; EXOME; EXON; FRAMESHIFT MUTATION; FUNCTIONAL DISEASE; GATA6 GENE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC VARIABILITY; HAPLOINSUFFICIENCY; HEART ATRIUM SEPTUM DEFECT; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; IMPAIRED GLUCOSE TOLERANCE; INSULIN TREATMENT; INTRAUTERINE GROWTH RETARDATION; INTRON; INTUBATION; LOSS OF FUNCTION MUTATION; MALE; MITRAL VALVE REGURGITATION; MITRAL VALVE STENOSIS; NEWBORN DISEASE; PANCREAS DISEASE; PANCREAS EXOCRINE INSUFFICIENCY; PANCREATIC AGENESIS; PATENT DUCTUS ARTERIOSUS; RESPIRATORY DISTRESS; SITE DIRECTED MUTAGENESIS; STOP CODON; TRANSCRIPTION INITIATION; CONGENITAL MALFORMATION; GENETIC TRANSCRIPTION; GENETICS; MUTATION; NEWBORN; PANCREAS; PANCREATIC DISEASES;

GATA6 TRANSCRIPTION FACTOR; HEART DEFECTS, CONGENITAL; HUMANS; INFANT, NEWBORN; MALE; MUTATION; PANCREAS; PANCREATIC DISEASES; TRANSCRIPTION, GENETIC;

EID: 84923383285     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0118449     Document Type: Article

References (43)

1. Baumeister FA, Engelsberger I, Schulze A (2005) Pancreatic agenesis as cause for neonatal diabetes mellitus. Klin Padiatr 217: 76-81. PMID: 15770578
2. Chen R, Hussain K, Al-Ali M, Dattani MT, Hindmarsh P, et al. (2008) Neonatal and late-onset diabetes mellitus caused by failure of pancreatic development: report of 4 more cases and a review of the literature. Pediatrics 121: e1541-1547. doi: 10.1542/peds.2007-3543 PMID: 18519458
3. Lango Allen H, Flanagan SE, Shaw-Smith C, De Franco E, Akerman I, et al. (2012) GATA6 haploinsufficiency causes pancreatic agenesis in humans. Nat Genet 44: 20-22.
4. De Franco E, Shaw-Smith C, Flanagan SE, Shepherd MH, International NDMC, et al. (2013) GATA6 mutations cause a broad phenotypic spectrum of diabetes from pancreatic agenesis to adult-onset diabetes without exocrine insufficiency. Diabetes 62: 993-997. doi: 10.2337/db12-0885 PMID: 23223019
5. Nakao A, Takeda T, Hisaeda Y, Hirota A, Amagata S, et al. (2013) Pancreatic agenesis with congenital diaphragmatic hernia and congenital heart disease: a case report. AJP Rep 3: 119-122. doi: 10.1055/s-0033-1353388 PMID: 24147249
6. Suzuki S, Nakao A, Sarhat AR, Furuya A, Matsuo K, et al. (2014) A case of pancreatic agenesis and congenital heart defects with a novel GATA6 nonsense mutation: evidence of haploinsufficiency due to nonsense-mediated mRNA decay. Am J Med Genet A 164A: 476-479. doi: 10.1002/ajmg.a.36275 PMID: 24310933
7. Ashraf A, Abdullatif H, Hardin W, Moates JM (2005) Unusual case of neonatal diabetes mellitus due to congenital pancreas agenesis. Pediatr Diabetes 6: 239-243. PMID: 16390394
8. Balasubramanian M, Shield JP, Acerini CL, Walker J, Ellard S, et al. (2010) Pancreatic hypoplasia presenting with neonatal diabetes mellitus in association with congenital heart defect and developmental delay. Am J Med Genet A 152A: 340-346. doi: 10.1002/ajmg.a.33194 PMID: 20082465
9. Bonnefond A, Sand O, Guerin B, Durand E, De Graeve F, et al. (2012) GATA6 inactivating mutations are associated with heart defects and, inconsistently, with pancreatic agenesis and diabetes. Diabetologia 55: 2845-2847. doi: 10.1007/s00125-012-2645-7 PMID: 22806356
10. Bruce MB, Coutts JP (1982) Complete agenesis of the mid-gut: a case report. Aust N Z J Surg 52: 313-315. PMID: 6954935
11. Giannattasio A, Campus R, Muraca M, Lucigrai G, Michelazzi A, et al. (2009) Amyand's hernia in a child with permanent neonatal diabetes due to pancreatic agenesis. Pediatr Rep 1: e6. doi: 10.4081/pr.2009.e6 PMID: 21589822
12. Gurson CT, Tahsinoglu M, Yakacikli S, Ertugrul T (1970) A case of agenesis of the dorsal pancreas with interventricular septal defect in an infant. Helv Paediatr Acta 25: 522-526. PMID: 5493568
13. Samaee H, Sadeghi-Moghadam P, Arab-Hosseini A, Aramesh MR, Marzban A (2008) Neonatal diabetes mellitus due to pancreatic agenesis. Arch Iran Med 11: 335-336. doi: 08113/AIM.0018 PMID: 18426328
14. Schwitzgebel VM, Mamin A, Brun T, Ritz-Laser B, Zaiko M, et al. (2003) Agenesis of human pancreas due to decreased half-life of insulin promoter factor 1. J Clin Endocrinol Metab 88: 4398-4406. PMID: 12970316
15. Sellick GS, Barker KT, Stolte-Dijkstra I, Fleischmann C, Coleman RJ, et al. (2004) Mutations in PTF1A cause pancreatic and cerebellar agenesis. Nat Genet 36: 1301-1305. PMID: 15543146
16. Stanescu DE, Hughes N, Patel P, De Leon DD (2014) A novel mutation in GATA6 causes pancreatic agenesis. Pediatr Diabetes.
17. Stingl H, Schnedl WJ, Krssak M, Bernroider E, Bischof MG, et al. (2002) Reduction of hepatic glycogen synthesis and breakdown in patients with agenesis of the dorsal pancreas. J Clin Endocrinol Metab 87: 4678-4685. PMID: 12364458
18. Taha D, Bardise J, Hegab A, Bonnefond A, Marchand M, et al. (2008) Neonatal diabetes mellitus because of pancreatic agenesis with dysmorphic features and recurrent bacterial infections. Pediatr Diabetes 9: 240-244. doi: 10.1111/j.1399-5448.2007.00365.x PMID: 18547237
19. Verwest AM, Poelman M, Dinjens WN, Batstra MR, Oostra BA, et al. (2000) Absence of a PDX-1 mutation and normal gastroduodenal immunohistology in a child with pancreatic agenesis. Virchows Arch 437: 680-684. PMID: 11193482
20. Voldsgaard P, Kryger-Baggesen N, Lisse I (1994) Agenesis of pancreas. Acta Paediatr 83: 791-793. PMID: 7949819
21. Eifes S, Chudasama KK, Molnes J, Wagner K, Hoang T, et al. (2013) A novel GATA6 mutation in a child with congenital heart malformation and neonatal diabetes. Clinical Case Reports 1: 86-90. doi: 10.1002/ccr3.33 PMID: 25356219
22. Sferruzzi-Perri AN, Vaughan OR, Forhead AJ, Fowden AL (2013) Hormonal and nutritional drivers of intrauterine growth. Curr Opin Clin Nutr Metab Care 16: 298-309. doi: 10.1097/MCO.0b013e32835e3643 PMID: 23340010
23. Barbarini DS, Haslinger V, Schmidt K, Patch AM, Muller G, et al. (2009) Neonatal diabetes mellitus due to pancreas agenesis: a new case report and review of the literature. Pediatr Diabetes 10: 487-491. doi: 10.1111/j.1399-5448.2009.00523.x PMID: 19496968
24. D'Amato E, Giacopelli F, Giannattasio A, D'Annunzio G, Bocciardi R, et al. (2010) Genetic investigation in an Italian child with an unusual association of atrial septal defect, attributable to a new familial GATA4 gene mutation, and neonatal diabetes due to pancreatic agenesis. Diabet Med 27: 1195-1200. doi: 10.1111/j.1464-5491.2010.03046.x PMID: 20854389
25. Thomas IH, Saini NK, Adhikari A, Lee JM, Kasa-Vubu JZ, et al. (2009) Neonatal diabetes mellitus with pancreatic agenesis in an infant with homozygous IPF-1 Pro63fsX60 mutation. Pediatr Diabetes 10: 492-496. doi: 10.1111/j.1399-5448.2009.00526.x PMID: 19496967
26. Stoffers DA, Zinkin NT, Stanojevic V, Clarke WL, Habener JF (1997) Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence. Nat Genet 15: 106-110. PMID: 8988180
27. Weedon MN, Cebola I, Patch AM, Flanagan SE, De Franco E, et al. (2014) Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis. Nat Genet 46: 61-64. doi: 10.1038/ng.2826 PMID: 24212882
28. Shaw-Smith C, De Franco E, Allen HL, Batlle M, Flanagan SE, et al. (2014) GATA4 mutations are a cause of neonatal and childhood-onset diabetes. Diabetes.
29. Ahlgren U, Jonsson J, Edlund H (1996) The morphogenesis of the pancreatic mesenchyme is uncoupled from that of the pancreatic epithelium in IPF1/PDX1-deficient mice. Development 122: 1409-1416. PMID: 8625829
30. Jonsson J, Carlsson L, Edlund T, Edlund H (1994) Insulin-promoter-factor 1 is required for pancreas development in mice. Nature 371: 606-609. PMID: 7935793
31. Offield MF, Jetton TL, Labosky PA, Ray M, Stein RW, et al. (1996) PDX-1 is required for pancreatic outgrowth and differentiation of the rostral duodenum. Development 122: 983-995. PMID: 8631275
32. Krapp A, Knofler M, Frutiger S, Hughes GJ, Hagenbuchle O, et al. (1996) The p48 DNA-binding subunit of transcription factor PTF1 is a new exocrine pancreas-specific basic helix-loop-helix protein. EMBO J 15: 4317-4329. PMID: 8861960
33. Decker K, Goldman DC, Grasch CL, Sussel L (2006) Gata6 is an important regulator of mouse pancreas development. Dev Biol 298: 415-429. PMID: 16887115
34. Xuan S, Borok MJ, Decker KJ, Battle MA, Duncan SA, et al. (2012) Pancreas-specific deletion of mouse Gata4 and Gata6 causes pancreatic agenesis. J Clin Invest 122: 3516-3528. doi: 10.1172/JCI63352 PMID: 23006325
35. Zhao R, Watt AJ, Battle MA, Li J, Bondow BJ, et al. (2008) Loss of both GATA4 and GATA6 blocks cardiac myocyte differentiation and results in acardia in mice. Dev Biol 317: 614-619. doi: 10.1016/j.ydbio.2008.03.013 PMID: 18400219
36. Zhao R, Watt AJ, Li J, Luebke-Wheeler J, Morrisey EE, et al. (2005) GATA6 is essential for embryonic development of the liver but dispensable for early heart formation. Mol Cell Biol 25: 2622-2631. PMID: 15767668
37. Carrasco M, Delgado I, Soria B, Martin F, Rojas A (2012) GATA4 and GATA6 control mouse pancreas organogenesis. J Clin Invest 122: 3504-3515. doi: 10.1172/JCI63240 PMID: 23006330
38. Thomas H, Jaschkowitz K, Bulman M, Frayling TM, Mitchell SM, et al. (2001) A distant upstream promoter of the HNF-4alpha gene connects the transcription factors involved in maturity-onset diabetes of the young. Hum Mol Genet 10: 2089-2097. PMID: 11590126
39. Lareau LF, Green RE, Bhatnagar RS, Brenner SE (2004) The evolving roles of alternative splicing. Curr Opin Struct Biol 14: 273-282. PMID: 15193306
40. Bingham PM, Chou TB, Mims I, Zachar Z (1988) On/off regulation of gene expression at the level of splicing. Trends Genet 4: 134-138. PMID: 2853467
41. Sorek R, Shamir R, Ast G (2004) How prevalent is functional alternative splicing in the human genome? Trends Genet 20: 68-71. PMID: 14746986
42. Morrisey EE, Tang Z, Sigrist K, Lu MM, Jiang F, et al. (1998) GATA6 regulates HNF4 and is required for differentiation of visceral endoderm in the mouse embryo. Genes Dev 12: 3579-3590. PMID: 9832509
43. Yamagata K (2014) Roles of HNF1alpha and HNF4alpha in pancreatic beta-cells: lessons from a monogenic form of diabetes (MODY). Vitam Horm 95: 407-423. doi: 10.1016/B978-0-12-800174-5.00016-8 PMID: 24559927