LETTER TO JMG

Major difference in aetiology and phenotypic abnormalities between transient and permanent neonatal diabetes

E Marquis¹, J J Robert², C Bouvattier³, C Bellanné-Chantelot⁴, C Junien¹, C Diatloff-Zito¹

¹ Inserm-U383, Hôpital Necker-Enfants Malades, 149-161 rue de Sévres, 75743 Paris Cedex 15, France
² Fédération de Pédiatrie, Hôpital Necker-Enfants Malades, Université de Paris V, 149-161 rue de Sévres, 75743 Paris Cedex 15, France
³ Hôpital Saint Vincent de Paul, Paris, France
⁴ Laboratoire de Génétique Médicale, Fondation Jean Dausset CEPH, Paris, France

Correspondence to:
Correspondence to:
Dr C Diatloff-Zito, Inserm U383, Hôpital Necker-Enfants Malades, 149-161 rue de Sévres, 75743 Paris Cedex 15, France;
diatloff@necker.fr

Keywords: neonatal diabetes; developmental abnormalities; chromosome 6; imprinting

Abbreviations: IDDM, insulin dependent diabetes mellitus; ND, neonatal diabetes; MODY, maturity onset diabetes of the young; T1D, type 1 diabetes; T2D, type 2 diabetes; UPD, uniparental disomy

Neonatal diabetes (ND) is a rare entity with an estimated incidence of 1/400 000 births in Europe. Hyperglycaemia usually occurs in the first few days of life and patients require insulin treatment. Intrauterine growth retardation, low birth weight, and decreased adipose tissue are frequently associated. ND is permanent in some patients (permanent ND), and in other cases hyperglycaemia is transient (transient ND, OMIM 601410). Type 2 diabetes (T2D) frequently arises in adolescence or adulthood in transient ND patients.¹ Chromosome 6 abnormalities are specifically associated with transient ND,^2–4 with imprinting effects unmasked by uniparental disomy (UPD) of paternal chromosome 6 and duplications in 6q24.^5–7 Two imprinted genes expressed from the paternal allele in various tissues, ZAC/PLAGL1 (zinc finger, apoptosis, cell cycle/pleomorphic adenoma of the salivary gland gene like 1) and HYMAI (hydatidiform mole associated and imprinted transcript), lie in the transient ND locus in 6q24.^{7, 8}

The genetic causes of permanent ND . . . [Full text of this article]

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This article has been cited by other articles:

• Aguilar-Bryan, L., Bryan, J. (2008). Neonatal Diabetes Mellitus. Endocr. Rev. 29: 265-291 [Abstract] [Full Text]  
• Diatloff-Zito, C, Nicole, A, Marcelin, G, Labit, H, Marquis, E, Bellanne-Chantelot, C, Robert, J J (2007). Genetic and epigenetic defects at the 6q24 imprinted locus in a cohort of 13 patients with transient neonatal diabetes: new hypothesis raised by the finding of a unique case with hemizygotic deletion in the critical region. J. Med. Genet. 44: 31-37 [Abstract] [Full Text]