BACKGROUND: Transient neonatal diabetes (TND) is a rare form of diabetes usually present in the first few days after birth that resolves within 1 year but that has a tendency to recur later in life. It can be associated with chromosome 6 paternal uniparental disomy (UPD), paternal duplications or loss of maternal methylation at the 6q24 imprinted locus. OBJECTIVE: To report on a cohort of 13 sporadic TND cases, including five with birth defects (congenital abnormalities of heart, brain and bone) and eight without. RESULTS: The hallmarks of diabetes were similar in patients with or without 6q24 defects. The chromosome 6 abnormalities in our patients (n = 13) included 2 of 13 (approximately 15.4%) cases of paternal UPD6, 2 of 11 (approximately 18%) cases of complete and 3 of 11 (approximately 27%) cases of partial loss of the maternal methylation signature upstream of ZAC1-HYMAI imprinted genes in non-UPD cases, and 1 of 13 (approximately 7.7%) cases of hemizygotic deletion. CONCLUSION: The deletion was found in a patient with severe congenital abnormalities. This genetic lesion was not reported previously. The hypothesis of an effect on regulatory elements critical for imprinting and tissue-specific gene expression in early development by the deletion is raised. The data presented here may contribute to the diagnosis and the understanding of imprinting in the region.
BACKGROUND: Transient neonatal diabetes (TND) is a rare form of diabetes usually present in the first few days after birth that resolves within 1 year but that has a tendency to recur later in life. It can be associated with chromosome 6 paternal uniparental disomy (UPD), paternal duplications or loss of maternal methylation at the 6q24 imprinted locus. OBJECTIVE: To report on a cohort of 13 sporadic TND cases, including five with birth defects (congenital abnormalities of heart, brain and bone) and eight without. RESULTS: The hallmarks of diabetes were similar in patients with or without 6q24 defects. The chromosome 6 abnormalities in our patients (n = 13) included 2 of 13 (approximately 15.4%) cases of paternal UPD6, 2 of 11 (approximately 18%) cases of complete and 3 of 11 (approximately 27%) cases of partial loss of the maternal methylation signature upstream of ZAC1-HYMAI imprinted genes in non-UPD cases, and 1 of 13 (approximately 7.7%) cases of hemizygotic deletion. CONCLUSION: The deletion was found in a patient with severe congenital abnormalities. This genetic lesion was not reported previously. The hypothesis of an effect on regulatory elements critical for imprinting and tissue-specific gene expression in early development by the deletion is raised. The data presented here may contribute to the diagnosis and the understanding of imprinting in the region.
Authors: M Kamiya; H Judson; Y Okazaki; M Kusakabe; M Muramatsu; S Takada; N Takagi; T Arima; N Wake; K Kamimura; K Satomura; R Hermann; D T Bonthron; Y Hayashizaki Journal: Hum Mol Genet Date: 2000-02-12 Impact factor: 6.150
Authors: Anna L Gloyn; Frank Reimann; Christophe Girard; Emma L Edghill; Peter Proks; Ewan R Pearson; I Karen Temple; Deborah J G Mackay; Julian P H Shield; Debra Freedenberg; Kathryn Noyes; Sian Ellard; Frances M Ashcroft; Fiona M Gribble; Andrew T Hattersley Journal: Hum Mol Genet Date: 2005-02-17 Impact factor: 6.150
Authors: D J G Mackay; J M D Hahnemann; S E Boonen; S Poerksen; D J Bunyan; H E White; V J Durston; N S Thomas; D O Robinson; J P H Shield; J Clayton-Smith; I K Temple Journal: Hum Genet Date: 2006-01-05 Impact factor: 4.132
Authors: R J Gardner; D J Mackay; A J Mungall; C Polychronakos; R Siebert; J P Shield; I K Temple; D O Robinson Journal: Hum Mol Genet Date: 2000-03-01 Impact factor: 6.150
Authors: Peter Proks; Amanda L Arnold; Jan Bruining; Christophe Girard; Sarah E Flanagan; Brian Larkin; Kevin Colclough; Andrew T Hattersley; Frances M Ashcroft; Sian Ellard Journal: Hum Mol Genet Date: 2006-04-13 Impact factor: 6.150
Authors: Céline Huber; Anee-Lise Delezoide; Fabien Guimiot; Clarisse Baumann; Valérie Malan; Martine Le Merrer; Daniela Bezerra Da Silva; Dominique Bonneau; Pierre Chatelain; Carol Chu; Robin Clark; Helen Cox; Patrick Edery; Thomas Edouard; Virginia Fano; Kate Gibson; Gabriele Gillessen-Kaesbach; Maria-Luisa Giovannucci-Uzielli; Luitgard Margarete Graul-Neumann; Johana-Maria van Hagen; Liselot van Hest; Dafne Horovitz; Judith Melki; Carl-Joachim Partsch; Henry Plauchu; Anna Rajab; Massimiliano Rossi; David Sillence; Elisabeth Steichen-Gersdorf; Helen Stewart; Sheila Unger; Martin Zenker; Arnold Munnich; Valérie Cormier-Daire Journal: Eur J Hum Genet Date: 2008-10-29 Impact factor: 4.246
Authors: Emmanuelle S Topiol; Laurie A Minarich; Charles A Williams; Roberto T Zori; David W Kays; Michael J Haller Journal: Int J Pediatr Endocrinol Date: 2012-07-10