Please use this identifier to cite or link to this item: https://doi.org/10.1186/2251-6581-12-46
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dc.titleFrequency and genetic spectrum of maturity-onset diabetes of the young (MODY) in southern New Zealand
dc.contributor.authorWheeler, B.J
dc.contributor.authorPatterson, N
dc.contributor.authorLove, D.R
dc.contributor.authorProsser, D
dc.contributor.authorTomlinson, P
dc.contributor.authorTaylor, B.J
dc.contributor.authorManning, P
dc.date.accessioned2020-11-10T00:28:26Z
dc.date.available2020-11-10T00:28:26Z
dc.date.issued2013
dc.identifier.citationWheeler, B.J, Patterson, N, Love, D.R, Prosser, D, Tomlinson, P, Taylor, B.J, Manning, P (2013). Frequency and genetic spectrum of maturity-onset diabetes of the young (MODY) in southern New Zealand. Journal of Diabetes and Metabolic Disorders 12 (1) : 46. ScholarBank@NUS Repository. https://doi.org/10.1186/2251-6581-12-46
dc.identifier.issn22516581
dc.identifier.urihttps://scholarbank.nus.edu.sg/handle/10635/183187
dc.description.abstractMaturity-Onset Diabetes of the Young (MODY) is a monogenic form of diabetes, consisting of a heterogeneous group of autosomal dominant inherited disorders. Typical onset is in individuals prior to twenty five years, and presentation can mimic type 1 or 2 diabetes. Molecular genetic testing can allow precise identification of the different MODY sub-types. Making a specific diagnosis of MODY can have important implications for the guidance of appropriate treatment, prognosis and genetic counselling.We present the cases of three children and their families diagnosed with MODY over the past two years. These families highlight the features of three of the more common MODY subtypes, including two with novel mutations, one of which segregates in a kindred that is strongly affected by both MODY and classic autoimmune mediated diabetes. To date, we have identified a prevalence of MODY in the paediatric diabetes population of the lower South Island, New Zealand, of approximately 2.5%. This prevalence, along with increasing access to molecular genetic testing, highlights the importance of consideration of MODY in atypical diabetes presentations in the paediatric/adolescent population. © 2013 Wheeler et al.; licensee BioMed Central Ltd.
dc.rightsAttribution 4.0 International
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.sourceUnpaywall 20201031
dc.subjectgliclazide
dc.subjectglucokinase
dc.subjectglucose
dc.subjecthepatocyte nuclear factor 1beta
dc.subjectinsulin
dc.subjectinsulin aspart
dc.subjectisophane insulin
dc.subjectacanthosis nigricans
dc.subjectadolescent
dc.subjectArticle
dc.subjectcase report
dc.subjectchild
dc.subjectchromosome 17q
dc.subjectchromosome deletion
dc.subjectdehydration
dc.subjectexon
dc.subjectface dysmorphia
dc.subjectfemale
dc.subjectGCK gene
dc.subjectgene loss
dc.subjectgene mutation
dc.subjectgenetic screening
dc.subjectglucose blood level
dc.subjectHNF1B gene
dc.subjecthuman
dc.subjecthyperglycemia
dc.subjecthypernatremia
dc.subjectinsulin dependent diabetes mellitus
dc.subjectinsulin resistance
dc.subjectintellectual impairment
dc.subjectmale
dc.subjectmorning dosage
dc.subjectmucocutaneous candidiasis
dc.subjectNew Zealand
dc.subjectnon insulin dependent diabetes mellitus
dc.subjectprevalence
dc.subjectschool child
dc.typeArticle
dc.contributor.departmentDEPT OF SURGERY
dc.description.doi10.1186/2251-6581-12-46
dc.description.sourcetitleJournal of Diabetes and Metabolic Disorders
dc.description.volume12
dc.description.issue1
dc.description.page46
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