Transient but not permanent neonatal diabetes mellitus is associated with paternal uniparental isodisomy of chromosome 6

: Hermann R, Laine AP, Johansson C, Niederland T, Tokarska L, Dziatkowiak H, Ilonen J, Soltesz G

Publisher: AMER ACAD PEDIATRICS

: 2000

: Pediatrics

: PEDIATRICS

: 105

: 1

: 49

: 52

: 4

: 0031-4005

DOI: https://doi.org/10.1542/peds.105.1.49

Conclusions. We propose that transient and permanent forms of neonatal diabetes mellitus have different genetic background and represent different disease entities. TND is associated with UPD of chromosome 6 suggesting that an imprinted gene on chromosome 6 is responsible for this phenotype. It seems that 2 copies of the paternal allele are necessary for the development of TND; therefore, it is likely that overexpression of a putative gene located on chromosome 6 alters pancreatic beta-cell maturation and insulin secretion.