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International Journal of Diabetes in Developing Countries

Erschienen in:

01.03.2016 | Editorial

Monogenic diabetes—diagnostic conundrums

verfasst von: Aaron Chapla, Felix K. Jebasingh, Nihal Thomas

Erschienen in: International Journal of Diabetes in Developing Countries | Ausgabe 1/2016

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Diabetes mellitus (DM) is a global pandemic [1] that affects nearly 382 million people worldwide [2]. The vast majority of patients (approximately 85 %) are classified into polygenic type 1 diabetes (T1D) or type 2 diabetes (T2D). However, with growing evidence from genomic research, several monogenic causes of diabetes have emerged. Monogenic forms of diabetes include maturity onset of diabetes of young (MODY), neonatal diabetes and rare syndromic forms of diabetes [3]. …

The Lancet. The diabetes pandemic. The Lancet. 2011;378:99.

The Lancet. The global dominance of diabetes. The Lancet. 2013;382:1680.

Alkorta-Aranburu G, Carmody D, Cheng YW, Nelakuditi V, Ma L, Dickens JT, et al. Phenotypic heterogeneity in monogenic diabetes: the clinical and diagnostic utility of a gene panel-based next-generation sequencing approach. Mol Genet Metab. 2014;113:315–20.CrossRefPubMedPubMedCentral

Habeb AM, Al-Magamsi MSF, Eid IM, Ali MI, Hattersley AT, Hussain K, et al. Incidence, genetics, and clinical phenotype of permanent neonatal diabetes mellitus in northwest Saudi Arabia. Pediatr Diabetes. 2012;13:499–505.CrossRefPubMed

Chapla A, Mruthyunjaya MD, Asha HS, Varghese D, Varshney M, Vasan SK, et al. Maturity onset diabetes of the young in India—a distinctive mutation pattern identified through targeted next-generation sequencing. Clin Endocrinol (Oxf). 2015;82(4):533–42.CrossRef

Nair VV, Chapla A, Arulappan N, Thomas N. Molecular diagnosis of maturity onset diabetes of the young in India. Indian J Endocrinol Metab. 2013;17:430–41.CrossRefPubMedPubMedCentral

Schwitzgebel VM. Many faces of monogenic diabetes. J Diabetes Investig. 2014;5:121–33.CrossRefPubMedPubMedCentral

Greeley SAW, Naylor RN, Philipson LH, Bell GI. Neonatal diabetes: an expanding list of genes allows for improved diagnosis and treatment. Curr Diab Rep. 2011;11:519–32.CrossRefPubMedPubMedCentral

Clinical and genetic features of permanent neonatal diabetes mellitus - Online First - Springer [Internet]. [cited 2016 Feb 23]. Available from: http://link.springer.com/article/10.1007%2Fs13410-015-0398-9

10.

Huang K, Liang L, Fu J, Dong G. Permanent neonatal diabetes mellitus in China. BMC Pediatr. 2014;14:188.CrossRefPubMedPubMedCentral

11.

Cao B, Gong C, Wu D, Lu C, Liu F, Liu X, et al. Genetic analysis and follow-up of 25 neonatal diabetes mellitus patients in China. J. Diabetes Res. [Internet]. 2016 [cited 2016 Feb 23];2016. Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4709643/

12.

Ellard S, Lango Allen H, De Franco E, Flanagan SE, Hysenaj G, Colclough K, et al. Improved genetic testing for monogenic diabetes using targeted next-generation sequencing. Diabetologia. 2013;56:1958–63.CrossRefPubMedPubMedCentral

13.

Ganie MA, Laway BA, Nisar S, Wani MM, Khurana ML, Ahmad F, et al. Presentation and clinical course of Wolfram (DIDMOAD) syndrome from North India. Diabet Med. 2011;28(11):1337–42.CrossRefPubMed

14.

Abbasi R, Bitarafan F, Khodaeian M, Ebrahim-Habibi A, Abbasi F, Amoli MM. Molecular investigation of WFS1 gene exon 8 in Iranian patients with Wolfram syndrome. Int. J. Diabetes Dev. Ctries. 2015;1–6.

15.

Kadayifci A, Kepekci Y, Coskun Y, Huang Y. Wolfram syndrome in a family with variable expression. Acta Medica Hradec Král Univ Carol Fac Medica Hradec Král. 2001;44:115–8.

16.

Qian X, Qin L, Xing G, Cao X. Phenotype prediction of pathogenic nonsynonymous single nucleotide polymorphisms in WFS1. Sci Rep. 2015;5:14731.CrossRefPubMedPubMedCentral

Titel: Monogenic diabetes—diagnostic conundrums
verfasst von: Aaron Chapla
Felix K. Jebasingh
Nihal Thomas
Publikationsdatum: 01.03.2016
Verlag: Springer India
Erschienen in: International Journal of Diabetes in Developing Countries / Ausgabe 1/2016
Print ISSN: 0973-3930
Elektronische ISSN: 1998-3832
DOI: https://doi.org/10.1007/s13410-016-0476-7

Live-Webinar: Aktuelle Leitlinien bei Herz-Kreislauf-Erkrankungen

Springer Medizin

Monogenic diabetes—diagnostic conundrums

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Live-Webinar: Aktuelle Leitlinien bei Herz-Kreislauf-Erkrankungen

Springer Medizin

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