Incidence, genetics, and clinical phenotype of permanent neonatal diabetes mellitus in northwest Saudi Arabia

Pediatric Diabetes

Volumn 13, Issue 6, 2012, Pages 499-505

  Habeb, Abdelhadi M ^a   Al Magamsi, Mohamed S F ^a   Eid, Ihsan M ^a   Ali, Mohamed I ^a   Hattersley, Andrew T ^b   Hussain, Khalid ^c   Ellard, Sian ^b  

^a Maternity and Children Hospital ^*  (Saudi Arabia)

^b UNIVERSITY OF EXETER   (United Kingdom)

^c GREAT ORMOND STREET HOSPITAL   (United Kingdom)

Author keywords

Monogenic diabetes; Neonatal diabetes; Prevalence; Saudi Arabia

Indexed keywords

GLUCOSE TRANSPORTER 2; INSULIN; INWARDLY RECTIFYING POTASSIUM CHANNEL SUBUNIT KIR6.2; NEUROGENIC DIFFERENTIATION FACTOR; SULFONYLUREA RECEPTOR 1;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; DIABETES MELLITUS; FEMALE; GENE MUTATION; GENE SEQUENCE; HUMAN; INCIDENCE; INFANT; LIVE BIRTH; MALE; NEWBORN DISEASE; PERMANENT NEONATAL DIABETES MELLITUS; PRIORITY JOURNAL; SAUDI ARABIA;

CHILD; CHILD, PRESCHOOL; CONSANGUINITY; DIABETES MELLITUS; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INCIDENCE; INFANT; INFANT, NEWBORN; INFANT, NEWBORN, DISEASES; MALE; PHENOTYPE; SAUDI ARABIA;

EID: 84865646738     PISSN: 1399543X     EISSN: 13995448     Source Type: Journal    
DOI: 10.1111/j.1399-5448.2011.00828.x     Document Type: Article

References (32)

1. Hattersley AT, Ashcroft FM. Activating mutations in Kir6.2 and neonatal diabetes: new clinical syndromes, new scientific insights, and new therapy. Diabetes 2005: 54: 2503-2513.
2. Massa O, Iafusco D, D'Amato E et al. KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes. Hum Mutat 2005: 25: 22-27.
3. Polak M, Cave H. Neonatal diabetes mellitus: a disease linked to multiple mechanisms. Orphanet J Rare Dis 2007: 2: 12.
4. Grulich-Henn J, Wagner V, Thon A et al. Entities and frequency of neonatal diabetes: data from the diabetes documentation and quality management system (DPV). Diabet Med 2010: 27: 709-712.
5. Shield JP, Gardner RJ, Wadsworth EJ et al. Aetiopathology and genetic basis of neonatal diabetes. Arch Dis Child Fetal Neonatal Ed 1997: 76: F39-F42.
6. Wiedemann B, Schober E, Waldhoer T et al. Incidence of neonatal diabetes in Austria-calculation based on the Austrian Diabetes Register. Pediatr Diabetes 2010: 11: 18-23.
7. Stanik J, Gasperikova D, Paskova M et al. Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers. J Clin Endocrinol Metab 2007: 92: 1276-1282.
8. Slingerland AS, Shields BM, Flanagan SE. 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.
9. Bappal B, Raghupathy P, de Silva V, Khusaiby SM. Permanent neonatal diabetes mellitus: clinical presentation and epidemiology in Oman. Arch Dis Child Fetal Neonatal Ed 1999: 80: F209-F212.
10. Murphy R, Ellard S, Hattersley AT. Clinical implications of a molecular genetic classification of monogenic β-cell diabetes. Nat Clin Pract Endocrinol Metab 2008: 4: 200-213.
11. Suzuki S, Makita Y, Mukai T, Matsuo K, Ueda O, Fujieda K. Molecular basis of neonatal diabetes in Japanese patients. J Clin Endocrinol Metab 2007: 92: 3980-3986.
12. Støy J, Greeley SA, Paz VP et al. Diagnosis and treatment of neonatal diabetes: a United States experience. Pediatr Diabetes 2008: 5: 450-459.
13. Flanagan SE, Edghill EL, Gloyn AL, Ellard S, Hattersley AT. Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6 months of life, with the phenotype determined by genotype. Diabetologia 2006: 49: 1190-1197.
14. Vaxillaire M, Populaire C, Busiah K et al. Kir6.2 mutations are a common cause of permanent neonatal diabetes in a large cohort of French patients. Diabetes 2004: 53: 2719-2722.
15. Russo L, Iafusco D, Brescianini S et al. Permanent diabetes during the first year of life: multiple gene screening in 54 patients Diabetologia. Diabetologia 2011: 54: 1693-1701.
16. Edghill EL, Flanagan SE, Patch AM et al. 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 2008: 57: 1034-1042.
17. El Mouzan MI, Al Salloum AA, Al Herbish AS, Qurachi MM, Al-Omar AA. Regional variation in the prevalence of consanguinity in Saudi Arabia. Saudi Med J 2007: 28: 1881-1884.
18. Rubio-Cabezas O, Patch AM, Minton JA et al. Wolcott Rallison syndrome is the most common cause of permanent neonatal diabetes in consanguineous families. J Clin Endocrinol Metab 2009: 94: 4162-4170.
19. Raz T, Labay V, Baron D et al. The spectrum of mutations, including four novel ones, in the thiamine-responsive megaloblastic anemia gene SLC19A2 of eight families. Hum Mutat 2000: 16: 37-42.
20. Senee V, Chelala C, Duchatelet S et al. Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism. Nat Genet 2006: 38: 682-687.
21. Dimitri P, Warner J, Minton J et al. Novel GLIS3 mutations demonstrate an extended multisystem phenotype. Eur J Endocrinol 2010: 164: 437-443.
22. Bittles AH. Consanguinity and its relevance to clinical genetics. Clin Genet 2001: 60: 89-98.
23. Edghill EL, Locke J, Flanagan SE et al. Recessive mutations in the INS gene; a novel common cause of permanent neonatal diabetes in consanguineous pedigrees. Diabetologia 2008: 51 (Suppl. 1): S104.
24. Senée V, Vattem KM, Delépine M et al. Wolcott-Rallison Syndrome: clinical, genetic, and functional study of EIF2AK3 mutations and suggestion of genetic heterogeneity. Diabetes 2004: 53: 1876-1883.
25. Ozbek MN, Senée V, Aydemir S et al. Wolcott-Rallison syndrome due to the same mutation (W522X) in EIF2AK3 in two unrelated families and review of the literature. Pediatric Diabetes 2010: 11: 279-285.
26. Taha D, Al-Harbi N, Al-Sabban E. Hyperglycemia and hypoinsulinemia in patients with Fanconi-Bickel syndrome. J Pediatr Endocrinol Metab 2008: 21: 581-586.
27. Yoo HW, Yoo HW, Shin YL, Seo EJ, Kim GH. Identification of a novel mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome presenting with neonatal diabetes mellitus and galactosaemia. Eur J Pediatr 2002: 161: 351-353.
28. Gloyn AL, Pearson ER, Antcliff JF et al. Activating mutations in the gene encoding the ATP-sensitive potassium channel subunit Kir6.2 gene are associated and permanent neonatal diabetes. N Engl J Med 2004: 350: 1838-1849.
29. Proks P, Arnold AL, Bruining J et al. A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes. Hum Mol Genet 2006: 15: 1793-1800.
30. Njolstad PR, Sagen JV, Bjørkhaug L et al. Permanent neonatal diabetes caused by glucokinase deficiency: inborn error of the glucose-insulin signaling pathway. Diabetes 2003: 52: 2854-2860.
31. Pearson ER, Flechtner I, Njølstad PR et al. Switching from insulin tooral sulfonylureas in patients with diabetes due to Kir6.2 mutations. N Engl J Med 2006: 355: 467-477.
32. Rafiq M, Flanagan SE, Patch AM, Shields BM, Ellard S, Hattersley AT. Effective treatment with oral sulfonylureas in patients with diabetes due to sulfonylurea receptor 1 (SUR1) mutations. Diabetes care 2008: 2: 204-209.