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PMID: 12471198 Published · ppublish English Journal Article Review

Transient neonatal diabetes, a disorder of imprinting.

Journal of medical genetics ·Vol. 39 ·No. 12 ·2002-12-00 ·Pages 872-5

Temple IK, Shield JP

Abstract

Transient neonatal diabetes (TND) is a rare but distinct type of diabetes. Classically, neonates present with growth retardation and diabetes in the first week of life. Apparent remission occurs by 3 months but there is a tendency for children to develop diabetes in later life. Evidence suggests it is the result of overexpression of an imprinted and paternally expressed gene/s within the TND critical region at 6q24. Two imprinted genes, ZAC (zinc finger protein associated with apoptosis and cell cycle arrest) and HYMAI (imprinted in hydatidiform mole) have been identified as potential candidates. Three genetic mechanisms have been shown to result in TND, paternal uniparental isodisomy of chromosome 6, paternally inherited duplication of 6q24, and a methylation defect at a CpG island overlapping exon 1 of ZAC/HYMAI.

MeSH Terms
Chromosome Mapping Chromosomes, Human, Pair 6/genetics Diabetes Mellitus/congenital,diagnosis,genetics,physiopathology Diagnosis, Differential Genetic Counseling Genetic Predisposition to Disease/genetics Genomic Imprinting/genetics Humans Infant, Newborn Infant, Newborn, Diseases/diagnosis,genetics,physiopathology Male Uniparental Disomy/genetics
Authors & Affiliations
2 authors, click to expand affiliations / ORCID
Temple I K
Wessex Clinical Genetics Service, Southampton University Hospitals NHS Trust, Coxford Road, Southampton SO16 5YA, UK. ikt@soton.ac.uk
Shield J P H
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Article Info
Journal
Journal of medical genetics
Abbr.
J Med Genet
ISSN
1468-6244
DOI
10.1136/jmg.39.12.872
Email
ikt@soton.ac.uk
Published
2002-12-00
Pages
872-5
Language
English
Region
England
NLM ID
2985087R
PMCID
PMC1757233
Subset
IM
External Links
PubMed source DOI: 10.1136/jmg.39.12.872 PMC Full Text View journal details
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