Permanent neonatal diabetes due to paternal germline mosaicism for an activating mutation of the KCNJ11 gene encoding the Kir6.2 subunit of the β-cell potassium adenosine triphosphate channel

Journal of Clinical Endocrinology and Metabolism

Volumn 89, Issue 8, 2004, Pages 3932-3935

  Gloyn, Anna L ^a,b,c,d,e   Cummings, Elizabeth A ^a,b,c,d,e   Edghill, Emma L ^a,b,c,d,e   Harries, Lorna W ^a,b,c,d,e   Scott, Rachel ^a,b,c,d,e   Costa, Teresa ^a,b,c,d,e   Temple, I Karen ^a,b,c,d,e   Hattersley, Andrew T ^a,b,c,d,e   Ellard, Sian ^a,b,c,d,e  

^a PENINSULA MEDICAL SCHOOL   (United Kingdom)

^b DALHOUSIE UNIVERSITY   (Canada)

^c UNIVERSITY OF MONTREAL   (Canada)

^d UNIVERSITY HOSPITAL SOUTHAMPTON NHS FOUNDATION TRUST   (United Kingdom)

^e ROYAL DEVON AND EXETER HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATASE (POTASSIUM); DNA; INSULIN; INSULIN LISPRO; INWARDLY RECTIFYING POTASSIUM CHANNEL SUBUNIT KIR6.2; ISOPHANE INSULIN; POTASSIUM CHANNEL;

ARTICLE; CASE REPORT; DIABETES MELLITUS; DNA SEQUENCE; GENE MUTATION; GENOTYPE; GERM LINE; HETEROZYGOTE; HUMAN; INSULIN PUMP; LEUKOCYTE; MALE; MOSAICISM; NEWBORN; NUCLEOTIDE SEQUENCE; PATERNALISM; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION;

ADENOSINE TRIPHOSPHATE; ALLELES; ARGININE; CYSTEINE; DIABETES MELLITUS; DNA; FATHERS; GENE EXPRESSION REGULATION; GERM-LINE MUTATION; HETEROZYGOTE; HUMANS; INFANT, NEWBORN; ISLETS OF LANGERHANS; MALE; MOSAICISM; MUTATION, MISSENSE; PEDIGREE; POTASSIUM CHANNELS, INWARDLY RECTIFYING;

EID: 4043088022     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.2004-0568     Document Type: Article

References (23)

1. Gribble FM, Reimann F 2003 Sulphonylurea action revisited: the post-cloning era. Diabetologia 46:875-891
2. Clement JP, Kunjilwar K, Gonzalez G, Schwanstecher M, Panten U, Aguilar-Bryan L, Bryan J 1997 Association and stoichiometry of K-ATP channel subunits. Neuron 18:827-838
3. Thomas PM, Cote GJ, Wohilk N, Haddad B, Mathew PM, Rabel W, Aquilar-Bryan L, Gagel RF, Byran J 1995 Mutations in the sulphonylurea receptor and familial persistent hyperinsulinemic hypoglycemia of infancy. Science 268: 426-429
4. Thomas PM, Yuyang Y, Lightner E 1996 Mutation of the pancreatic islet inward rectifier, Kir6.2, also leads to familial persistent hyperinsulinemic hypoglycemia of infancy. Hum Mol Genet 5:1809-1812
5. Gloyn AL, Pearson ER, Antcliff JF, Proks P, Bruining GJ, Slingerland AS, Howard N, Srinivasan S, Silva JMCL, Moines J, Edghill EL, Frayling TM, Temple IK, Mackay D, Shield JPH, Sumnik Z, van Rhijn A, Wales JK, Clark P, Gorman S, Aisenberg J, Ellard S, Njølstad PR, Ashcroft FM, Hattersley AT 2004 Activating mutations in the ATP-sensitive potassium channel subunit Kir6.2 gene are associated with permanent neonatal diabetes, developmental delay and epilepsy. N Engl J Med 350:1838-1845
6. Applied Biosystems 2001 User bulletin 2; 11-15
7. Maas F, Schaap N, Kolen S, Zoetbrood A, Buno I, Dolstra H, de Witte T, Schattenberg A, van de Wiel-van Kemenade E 2003 Quantification of donor and recipient hemopoietic cells by real-time PCR of single nucleotide polymorphisms. Leukemia 17:630-633
8. Hendy GN, Minutti C, Canaff L, Pidasheva S, Yang B, Nouhi Z, Zimmerman D, Wei C, Cole DE 2003 Recurrent familial hypocalcemia due to germline mosaicism for an activating mutation of the calcium-sensing receptor gene. J Clin Endocrinol Metab 88:3674-3681
9. Amiel J, Audollent S, Joly D, Dureau P, Salomon R, Tellier AL, Auge J, Bouissou F, Antignac C, Gubler MC, Eccles MR, Munnich A, Vekemans M, Lyonnet S, Attie-Bitach T 2000 PAX2 mutations in renal-coloboma syndrome: mutational hotspot and germline mosaicism. Eur J Hum Genet 8:820-826
10. Aldred MA, Bagshaw RJ, Macdermot K, Casson D, Murch SH, Walker-Smith JA, Trembath RC 2000 Germline mosaicism for a GNAS1 mutation and Albright hereditary osteodystrophy. J Med Genet 37:E35
11. Forissier JF, Richard P, Briault S, Ledeuil C, Dubourg O, Charbonnier B, Carrier L, Moraine C, Bonne G, Komajda M, Schwartz K, Hainque B 2000 First description of germline mosaicism in familial hypertrophic cardiomyopathy. J Med Genet 37:132-134
12. Yates JR, van Bakel I, Sepp T, Payne SJ, Webb DW, Nevin NC, Green AJ 1997 Female germline mosaicism in tuberous sclerosis confirmed by molecular genetic analysis. Hum Mol Genet 6:2265-2269
13. Massa O, Meschi F, Cuesta-Munoz A, Caumo A, Cerutti F, Toni S, Cherubini V, Guazzarotti L, Sulli N, Matschinsky FM, Lorini R, Iafusco D, Barbetti F 2001 High prevalence of glucokinase mutations in Italian children with MODY. Influence on glucose tolerance, first-phase insulin response, insulin sensitivity and BMI. Diabetes Study Group of the Italian Society of Paediatric Endocrinology and Diabetes (SIEDP). Diabetologia 44:898-905
14. Glucksmann MA, Lehto M, Tayber O, Scotti S, Berkemeier L, Pulido C, Wu Y, Nir W-J, Fang L, Markel P, Munnelly KD, Goranson J, Orho M, Young BM, Whitacre JL, McMenimen C, Wantman M, Tuomi T, Warram J, Krolewski AS, Groop LC, Thomas JD 1997 Novel mutations and a mutational hotspot in the MODY3 gene. Diabetes 46:1081-1086
15. Hager J, Blanche H, Sun F, Vaxillaire NV, Poller W, Cohen D, Czernichow P, Velho G, Robert JJ, Cohen N, Froguel P 1994 Six mutations in the glucokinase gene identified in MODY by using a nonradioactive sensitive screening technique. Diabetes 43:730-733
16. Velho G, Blanche H, Vaxillaire M, Bellanne-Chantelot C, Pardini VC, Timsit J, Passa P, Robert JJ, Weber IT, Marotta D, Pilkis SJ, Lipkind GM, Bell GI, Froguel P 1997 Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families. Diabetologia 40:217-224
17. Tonooka N, Tomura H, Takahashi Y, Onigata K, Kikuchi N, Horikawa Y, Mori M, Takeda J 2002 High frequency of mutations in the HNF-1a gene in non-obese patients with diabetes of youth in Japanese and identification of a case of digenic inheritance. Diabetologia 45:1709-1712
18. Bingham C, Ellard S, Allen L, Bulman M, Shepherd M, Frayling T, Berry PJ, Clark PM, Lindner T, Bell GI, Ryffel GU, Nicholls AJ, Hattersley AT 2000 Abnormal nephron development associated with a frameshift mutation in the transcription factor hepatocyte nuclear factor-1 β. Kidney Int 57:898-907
19. Ellard S 2000 Hepatocyte nuclear factor 1 α (HNF-1 α) mutations in maturity-onset diabetes of the young. Hum Mutat 16:377-385
20. Gloyn AL 2003 Glucokinase (GCK) mutations in hyper- and hypoglycemia: maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy. Hum Mutat 22:353-362
21. Zlotogora J 1998 Germ line mosaicism. Hum Genet 102:381-386
22. Ribalet B, John SA, Weiss JN 2003 Molecular basis for Kir6.2 channel inhibition by adenine nucleotides. Biophys J 84:266-276
23. Yorifuji T, Kurokawa K, Mamada M, Imai T, Kawai M, Nishi Y, Shishido S, Hasegawa Y, Nakahata T 2004 Neonatal diabetes mellitus and neonatal polycystic, displastic kidneys: phenotypically discordant recurrence of a mutation in the hepatocyte nuclear factor-1β gene due to germline mosaicism. J Clin Endocrinol Metab 89:2905-2908