Clinical characteristics and molecular genetic analysis of 22 patients with neonatal diabetes from the South-Eastern region of Turkey: predominance of non-KATP channel mutations

European Journal of Endocrinology
Huseyin DemirbilekKhalid Hussain

Abstract

Neonatal diabetes mellitus (NDM) is a rare form of monogenic diabetes and usually presents in the first 6 months of life. We aimed to describe the clinical characteristics and molecular genetics of a large Turkish cohort of NDM patients from a single centre and estimate an annual incidence rate of NDM in South-Eastern Anatolian region of Turkey. NDM patients presenting to Diyarbakir Children State Hospital between 2010 and 2013, and patients under follow-up with presumed type 1 diabetes mellitus, with onset before 6 months of age were recruited. Molecular genetic analysis was performed. Twenty-two patients (59% males) were diagnosed with NDM (TNDM-5; PNDM-17). Molecular genetic analysis identified a mutation in 20 (95%) patients who had undergone a mutation analysis. In transient neonatal diabetes (TNDM) patients, the genetic cause included chromosome 6q24 abnormalities (n=3), ABCC8 (n=1) and homozygous INS (n=1). In permanent neonatal diabetes (PNDM) patients, homozygous GCK (n=6), EIF2AK3 (n=3), PTF1A (n=3), and INS (n=1) and heterozygous KCNJ11 (n=2) mutations were identified. Pancreatic exocrine dysfunction was observed in patients with mutations in the distal PTF1A enhancer. Both patients with a KCNJ11 mutation responded t...Continue Reading

References

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Citations

Feb 4, 2016·Journal of Diabetes Research·Bingyan CaoMei Feng
Aug 24, 2019·Molecular Genetics & Genomic Medicine·Sara Al-KhawagaKhalid Hussain
Sep 8, 2020·The Journal of Clinical Endocrinology and Metabolism·Huseyin DemirbilekElisa De Franco
Apr 24, 2020·Orphanet Journal of Rare Diseases·Alena WeltersReinhard W Holl
May 8, 2020·Nature Reviews. Endocrinology·Tanadet PipatpolkaiFrances M Ashcroft
May 30, 2019·International Journal of Molecular Sciences·Huseyin DemirbilekKhalid Hussain
Jan 8, 2021·Indian Journal of Pediatrics·Sapna NayakEesh Bhatia
Feb 18, 2018·Current Opinion in Genetics & Development·Lisa R Letourneau, Siri Atma W Greeley
Jun 30, 2021·Journal of Pediatric Endocrinology & Metabolism : JPEM·Mohsina Noor IbrahimJamal Raza
Jul 7, 2021·European Journal of Medical Genetics·Khouloud RjibaSoumaya Mougou-Zerelli
Jun 27, 2021·Molecular Metabolism·Julie StøyAndrew T Hattersley

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Methods Mentioned

BETA
PCR

Software Mentioned

Mutation Surveyor
SoftGenetics
SPSS

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