Do second generation sequencing techniques identify documented genetic markers for neonatal diabetes mellitus?

AbstractNeonatal diabetes mellitus (NDM) is a monogenic form of diabetes occurring within 6 months from birth. NDM can be permanent or transient (TNDM). We report the case of a preterm infant with TNDM due to an ABCC8 mutation identified by next-generation sequencing. The pancreatic adenosine triphosphate (ATP)-sensitive K+ (K-ATP) channel is a key regulator of insulin secretion. Gain-of-function mutations in the genes encoding the Kir6.2 (KCNJ11) and SUR1 (ABCC8) subunits of the channel cause neonatal diabetes. The patient was successfully managed with insulin lispro at a 1:100 dilution, drawn up in an insulin pen injector with a 4-mm needle. The insulin lispro dilution allowed administration of the exact insulin doses, obtaining a good glycemic control and minimizing the burden of injections. At 2 months, corrected age insulin doses were progressively decreased until discontinuation.

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Molecular Diagnosis of Neonatal Diabetes Mellitus Using Next-Generation Sequencing of the Whole Exome

PLoS ONE ◽

10.1371/journal.pone.0013630 ◽

2010 ◽

Vol 5 (10) ◽

pp. e13630 ◽

Cited By ~ 84

Author(s):

Amélie Bonnefond ◽

Emmanuelle Durand ◽

Olivier Sand ◽

Franck De Graeve ◽

Sophie Gallina ◽

...

Keyword(s):

Diabetes Mellitus ◽

Next Generation Sequencing ◽

Molecular Diagnosis ◽

Neonatal Diabetes ◽

Neonatal Diabetes Mellitus ◽

Next Generation ◽

Whole Exome ◽

Generation Sequencing

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25-OR: Investigating a Candidate Causal Allele in Type 2 Diabetes Susceptibility Gene PAM as a Cause of Neonatal Diabetes Mellitus

Diabetes ◽

10.2337/db19-25-or ◽

2019 ◽

Vol 68 (Supplement 1) ◽

pp. 25-OR

Author(s):

SHAHANA SENGUPTA ◽

LORI L. BONNYCASTLE ◽

BENOIT HASTOY ◽

ANTJE GROTZ ◽

MAHESH M. UMAPATHYSIVAM ◽

...

Keyword(s):

Diabetes Mellitus ◽

Type 2 Diabetes ◽

Susceptibility Gene ◽

Neonatal Diabetes ◽

Neonatal Diabetes Mellitus ◽

Diabetes Susceptibility ◽

Diabetes Susceptibility Gene ◽

Causal Allele

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Correction to: Neonatal Diabetes Mellitus: Novel Mutations

The Indian Journal of Pediatrics ◽

10.1007/s12098-021-03769-7 ◽

2021 ◽

Author(s):

Sapna Nayak ◽

Aditya Narayan Sarangi ◽

Saroj Kumar Sahoo ◽

Pragya Mangla ◽

Manoranjan Tripathy ◽

...

Keyword(s):

Diabetes Mellitus ◽

Neonatal Diabetes ◽

Neonatal Diabetes Mellitus ◽

Novel Mutations

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The use of glimepiride for the treatment of neonatal diabetes mellitus caused by a novel mutation of the ABCC8 gene

Journal of Pediatric Endocrinology and Metabolism ◽

10.1515/jpem-2020-0030 ◽

2020 ◽

Vol 33 (12) ◽

pp. 1605-1608

Author(s):

Xiao Qin ◽

Jingzi Zhong ◽

Dan Lan

Keyword(s):

Diabetes Mellitus ◽

Novel Mutation ◽

Male Infant ◽

Neonatal Diabetes ◽

Monogenic Diabetes ◽

Neonatal Diabetes Mellitus ◽

Rare Form ◽

Case Presentation ◽

Abcc8 Gene

AbstractObjectivesNeonatal diabetes mellitus (NDM) is a rare form of monogenic diabetes that is usually diagnosed in the first six months of life.Case presentationWe report on a male infant with neonatal diabetes who presented with diabetic ketoacidosis at two months and 16 days. A novel homozygous missense mutation (c.259T>G) was identified in the ABCC8 gene. In this case, insulin was replaced with glimepiride at a dosage of 0.49 mg/kg/day at five months, and this achieved metabolic control and satisfactory growth as observed at follow-up.ConclusionsThis report improves our understanding of the mutational spectrum of ABCC8, which is normally associated with NDM, and shows that the treatment regimen for this condition can be successfully switched from insulin therapy to the use of sulfonylurea.

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