Whole-exome sequencing and high throughput genotyping identified KCNJ11 as the thirteenth MODY gene

PLoS ONE

Volumn 7, Issue 6, 2012, Pages

  Bonnefond, Amélie ^a,b   Philippe, Julien ^a,b   Durand, Emmanuelle ^a,b   Dechaume, Aurélie ^a,b   Huyvaert, Marlène ^a,b   Montagne, Louise ^a,b,c   Marre, Michel ^d,e   Balkau, Beverley ^f,g   Fajardy, Isabelle ^b   Vambergue, Anne ^b,h   Vatin, Vincent ^a,b   Delplanque, Jérôme ^a,b   Le Guilcher, David ^a,b   de Graeve, Franck ^a,b   Lecoeur, Cécile ^a,b   Sand, Olivier ^a,b   Vaxillaire, Martine ^a,b   Froguel, Philippe ^a,b,i  

^a INSTITUT PASTEUR DE LILLE   (France)

^b UNIV LILLE   (France)

^c UNIVERSITÉ CATHOLIQUE DE LILLE   (France)

^d BICHAT HOSPITAL   (France)

^e INSERM   (France)

^f CENTRE FOR RESEARCH IN EPIDEMIOLOGY AND POPULATION HEALTH   (France)

^g UNIVERSITÉ PARIS SACLAY   (France)

^h UNIVERSITÉ DE LILLE   (France)

ⁱ HAMMERSMITH HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

INWARDLY RECTIFYING POTASSIUM CHANNEL SUBUNIT KIR6.2; INWARDLY RECTIFYING POTASSIUM CHANNEL;

ADOLESCENT; ADULT; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; EXOME; FEMALE; GENE; GENE MUTATION; GENETIC PROCEDURES; GENETIC SUSCEPTIBILITY; GENOTYPE; HIGH THROUGHPUT GENOTYPING; HUMAN; IMPAIRED GLUCOSE TOLERANCE; INSULIN DEPENDENT DIABETES MELLITUS; KCNJ11 GENE; LINKAGE ANALYSIS; MALE; MATURITY ONSET DIABETES MELLITUS; MOLECULAR DIAGNOSIS; MUTATIONAL ANALYSIS; NON INSULIN DEPENDENT DIABETES MELLITUS; PEDIGREE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; WHOLE EXOME SEQUENCING; CHROMOSOME MAP; FRANCE; GENETIC LINKAGE; GENETIC PREDISPOSITION; GENETICS; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PEDIGREE;

BASE SEQUENCE; CHROMOSOME MAPPING; DIABETES MELLITUS, TYPE 2; DNA MUTATIONAL ANALYSIS; EXOME; FRANCE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; LOD SCORE; MOLECULAR SEQUENCE DATA; PEDIGREE; POTASSIUM CHANNELS, INWARDLY RECTIFYING;

EID: 84862207587     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0037423     Document Type: Article

References (31)

1. Bonnefond A, Froguel P, Vaxillaire M, (2010) The emerging genetics of type 2 diabetes. Trends Mol Med 16: 407 416.
2. Bowman P, Flanagan SE, Edghill EL, Damhuis A, Shepherd MH, (2012) Heterozygous ABCC8 mutations are a cause of MODY. Diabetologia 55: 123 127.
3. Fajans SS, Bell GI, (2011) MODY: history, genetics, pathophysiology, and clinical decision making. Diabetes Care 34: 1878 1884.
4. Vaxillaire M, Froguel P, (2006) Genetic basis of maturity-onset diabetes of the young. Endocrinol Metab Clin North Am 35: 371-384.
5. Bamshad MJ, Ng SB, Bigham AW, Tabor HK, Emond MJ, (2011) Exome sequencing as a tool for Mendelian disease gene discovery. Nat Rev Genet 12: 745 755.
6. Bonnefond A, Durand E, Sand O, De Graeve F, Gallina S, (2010) Molecular diagnosis of neonatal diabetes mellitus using next-generation sequencing of the whole exome. PLoS One 5: e13630.
7. Frayling TM, Lindgren CM, Chevre JC, Menzel S, Wishart M, (2003) A genome-wide scan in families with maturity-onset diabetes of the young: evidence for further genetic heterogeneity. Diabetes 52: 872 881.
8. Babenko AP, Aguilar-Bryan L, Bryan J, (1998) A view of sur/KIR6.X, KATP channels. Annu Rev Physiol 60: 667 687.
9. Babenko AP, Polak M, Cave H, Busiah K, Czernichow P, (2006) Activating mutations in the ABCC8 gene in neonatal diabetes mellitus. N Engl J Med 355: 456 466.
10. Pearson ER, Flechtner I, Njolstad PR, Malecki MT, Flanagan SE, (2006) Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations. N Engl J Med 355: 467 477.
11. Iafusco D, Bizzarri C, Cadario F, Pesavento R, Tonini G, (2011) No beta cell desensitisation after a median of 68 months on glibenclamide therapy in patients with KCNJ11-associated permanent neonatal diabetes. Diabetologia 54: 2736 2738.
12. Rica I, Luzuriaga C, Perez de Nanclares G, Estalella I, Aragones A, (2007) The majority of cases of neonatal diabetes in Spain can be explained by known genetic abnormalities. Diabet Med 24: 707 713.
13. Edghill EL, Gloyn AL, Goriely A, Harries LW, Flanagan SE, (2007) Origin of de novo KCNJ11 mutations and risk of neonatal diabetes for subsequent siblings. J Clin Endocrinol Metab 92: 1773 1777.
14. Kochar IP, Kulkarni KP, (2010) Transient Neonatal Diabetes due to Kcnj11 Mutation. Indian Pediatr 47: 359 360.
15. Flanagan SE, Patch AM, Mackay DJ, Edghill EL, Gloyn AL, (2007) Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood. Diabetes 56: 1930 1937.
16. Girard CA, Shimomura K, Proks P, Absalom N, Castano L, (2006) Functional analysis of six Kir6.2 (KCNJ11) mutations causing neonatal diabetes. Pflugers Arch 453: 323 332.
17. Stoy J, Greeley SA, Paz VP, Ye H, Pastore AN, (2008) Diagnosis and treatment of neonatal diabetes: a United States experience. Pediatr Diabetes 9: 450 459.
18. Landau Z, Wainstein J, Hanukoglu A, Tuval M, Lavie J, (2007) Sulfonylurea-responsive diabetes in childhood. J Pediatr 150: 553 555.
19. Aguilar-Bryan L, Bryan J, (2008) Neonatal diabetes mellitus. Endocr Rev 29: 265 291.
20. Murphy R, Ellard S, Hattersley AT, (2008) Clinical implications of a molecular genetic classification of monogenic beta-cell diabetes. Nat Clin Pract Endocrinol Metab 4: 200 213.
21. Yorifuji T, Nagashima K, Kurokawa K, Kawai M, Oishi M, (2005) The C42R mutation in the Kir6.2 (KCNJ11) gene as a cause of transient neonatal diabetes, childhood diabetes, or later-onset, apparently type 2 diabetes mellitus. J Clin Endocrinol Metab 90: 3174 3178.
22. D'Amato E, Tammaro P, Craig TJ, Tosi A, Giorgetti R, (2008) Variable phenotypic spectrum of diabetes mellitus in a family carrying a novel KCNJ11 gene mutation. Diabet Med 25: 651 656.
23. Riveline JP, Rousseau E, Reznik Y, Fetita S, Philippe J, (2012) Clinical and Metabolic Features of Adult-Onset Diabetes Caused by ABCC8 Mutations. Diabetes Care 35: 248 251.
24. Boesgaard TW, Pruhova S, Andersson EA, Cinek O, Obermannova B, (2010) Further evidence that mutations in INS can be a rare cause of Maturity-Onset Diabetes of the Young (MODY). BMC Med Genet 11: 42.
25. Meur G, Simon A, Harun N, Virally M, Dechaume A, (2010) Insulin gene mutations resulting in early-onset diabetes: marked differences in clinical presentation, metabolic status, and pathogenic effect through endoplasmic reticulum retention. Diabetes 59: 653 661.
26. Molven A, Ringdal M, Nordbo AM, Raeder H, Stoy J, (2008) Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes. Diabetes 57: 1131 1135.
27. Edghill EL, Flanagan SE, Patch AM, Boustred C, Parrish A, (2008) Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood. Diabetes 57: 1034 1042.
28. Chevre JC, Hani EH, Boutin P, Vaxillaire M, Blanche H, (1998) Mutation screening in 18 Caucasian families suggest the existence of other MODY genes. Diabetologia 41: 1017 1023.
29. Balkau B, (1996) [An epidemiologic survey from a network of French Health Examination Centres, (D.E.S.I.R.): epidemiologic data on the insulin resistance syndrome]. Rev Epidemiol Sante Publique 44: 373 375.
30. Vaxillaire M, Boccio V, Philippi A, Vigouroux C, Terwilliger J, (1995) A gene for maturity onset diabetes of the young (MODY) maps to chromosome 12q. Nat Genet 9: 418 423.
31. Gudbjartsson DF, Thorvaldsson T, Kong A, Gunnarsson G, Ingolfsdottir A, (2005) Allegro version 2. Nat Genet 37: 1015 1016.