Hypoglycaemia following diabetes remission in patients with 6q24 methylation defects: Expanding the clinical phenotype

Diabetologia

Volumn 56, Issue 1, 2013, Pages 218-221

  Flanagan, S E ^a   MacKay, D J G ^b   Greeley, S A W ^c   McDonald, T J ^a   Mericq, V ^d   Hassing, J ^e   Richmond, E J ^f   Martin, W R ^g   Acerini, C ^h   Kaulfers, A M ⁱ   Flynn, D P ^j   Popovic, J ^j   Sperling, M A ^j   Hussain, K ^k,l   Ellard, S ^a   Hattersley, A T ^a  

^a UNIVERSITY OF EXETER MEDICAL SCHOOL   (United Kingdom)

^b SALISBURY DISTRICT HOSPITAL   (United Kingdom)

^c University of Chicago ^*  (United States)

^d UNIVERSITY OF CHILE   (Chile)

^e Rockwood Clinic   (United States)

^f National Children's Hospital   (Costa Rica)

^g Sacred Heart Children's Hospital   (United States)

^h UNIVERSITY OF CAMBRIDGE   (United Kingdom)

ⁱ UNIVERSITY OF SOUTH ALABAMA   (United States)

^j CHILDREN S HOSPITAL OF PITTSBURGH   (United States)

^k GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^l UNIVERSITY COLLEGE LONDON   (United Kingdom)

more..

Author keywords

Chromosome 6q24; Hypoglycaemia; Transient neonatal diabetes mellitus; Uniparental disomy

Indexed keywords

DIAZOXIDE; GLUCOSE; GROWTH HORMONE; HYDROCORTISONE; INSULIN;

CHROMOSOME 6Q; CHROMOSOME 6Q24; CHROMOSOME ABERRATION; CHROMOSOME DUPLICATION; CLINICAL ARTICLE; CONTROLLED STUDY; DIABETES MELLITUS; DIABETIC PATIENT; FEMALE; GENE LOCUS; GROWTH HORMONE BLOOD LEVEL; HUMAN; HYDROCORTISONE BLOOD LEVEL; HYPOGLYCEMIA; INSULIN BLOOD LEVEL; INSULIN RELEASE; LETTER; LIMIT OF DETECTION; MALE; MUTATIONAL ANALYSIS; NEWBORN; PHENOTYPE; PRIORITY JOURNAL; REMISSION; TRANSIENT NEONATAL DIABETES MELLITUS;

CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CHROMOSOMES, HUMAN, PAIR 6; DIABETES MELLITUS; DNA METHYLATION; FATHERS; FEMALE; HUMANS; HYPOGLYCEMIA; INFANT, NEWBORN; INFANT, NEWBORN, DISEASES; MALE; REMISSION, SPONTANEOUS; UNIPARENTAL DISOMY;

EID: 84871612732     PISSN: 0012186X     EISSN: 14320428     Source Type: Journal    
DOI: 10.1007/s00125-012-2766-z     Document Type: Letter

References (8)

1. Gardner RJ, Mackay DJ, Mungall AJ et al. (2000) An imprinted locus associated with transient neonatal diabetes mellitus. Hum Mol Genet 9:589-596 (Pubitemid 30154017)
2. Mackay DJ, Temple IK (2010) Transient neonatal diabetes mellitus type 1. Am J Med Genet C Semin Med Genet 154C:335-342
3. + channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood. Diabetes 56:1930-1937 (Pubitemid 47025462)
4. Mackay DJ, Temple IK, Shield JP, Robinson DO (2005) Bisulphite sequencing of the transient neonatal diabetes mellitus DMR facilitates a novel diagnostic test but reveals no methylation anomalies in patients of unknown aetiology. Hum Genet 116:255-261 (Pubitemid 40277236)
5. Kapoor RR, Flanagan SE, James C, Shield J, Ellard S, Hussain K (2009) Hyperinsulinaemic hypoglycaemia. Arch Dis Child 94:450-457
6. Otonkoski T, Ammala C, Huopio H et al. (1999) A point mutation inactivating the sulfonylurea receptor causes the severe form of persistent hyperinsulinemic hypoglycemia of infancy in Finland. Diabetes 48:408-415 (Pubitemid 29061118)
7. Ma D, Shield JP, Dean W et al. (2004) Impaired glucose homeostasis in transgenic mice expressing the human transient neonatal diabetes mellitus locus, TNDM. J Clin Invest 114:339-348 (Pubitemid 39071606)
8. Pearson ER, Boj SF, Steele AM et al. (2007) Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene. PLoS Med 4:e118 (Pubitemid 46658777)