Related Experiment Video

Updated: Jan 13, 2026

A High-Throughput Multiplexed Screening for Type 1 Diabetes, Celiac Diseases, and COVID-19
06:46

A High-Throughput Multiplexed Screening for Type 1 Diabetes, Celiac Diseases, and COVID-19

Published on: July 5, 2022

3.2K

The Clinical and Diagnostic Characterization of 6q24-Related Transient Neonatal Diabetes Mellitus: A Polish Pediatric

Michał Pietrusiński1, Julia Grzybowska-Adamowicz1, Tomasz Płoszaj1

  • 1Department of Clinical Genetics, Medical University of Lodz, 92-213 Lodz, Poland.

Biomedicines
|October 29, 2025
PubMed

Insights

Transient neonatal diabetes mellitus (TNDM) is often caused by epigenetic changes at the 6q24 locus. Methylation-specific MLPA is useful for diagnosing TNDM and detecting imprinting defects in pediatric patients.

Area of Science:

  • Pediatric Endocrinology
  • Molecular Genetics
  • Epigenetics

Background:

  • Transient neonatal diabetes mellitus (TNDM) is a temporary form of diabetes diagnosed in newborns, typically resolving in infancy.
  • Epigenetic abnormalities at the 6q24 locus, leading to overexpression of PLAGL1/HYMAI, are the primary cause of TNDM.
  • Early diagnosis and genetic analysis are crucial for managing TNDM and providing appropriate genetic counseling.

Purpose of the Study:

  • To conduct a retrospective clinical and genetic analysis of TNDM in a Polish pediatric cohort.
  • To evaluate the diagnostic utility of methylation-specific MLPA (MS-MLPA) for TNDM.
  • To identify the frequency and types of genetic aberrations at the 6q24 locus in TNDM patients.

Main Methods:

  • Retrospective analysis of medical records for 22 pediatric patients diagnosed with diabetes before one year of age.
  • Targeted next-generation sequencing (NGS) for a panel of neonatal diabetes mellitus (NDM) genes.
  • Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) specifically targeting the 6q24 imprinting region.

Main Results:

  • Six-twenty-four TNDM was diagnosed in five patients (22.7%), with a median remission age of 4 months.
  • MS-MLPA detected paternal uniparental disomy of chromosome 6 (UPD6) or maternal hypomethylation of PLAGL1 in three patients.
  • MS-MLPA also identified a paternal duplication of the 6q24 region in two patients.

Conclusions:

  • Genetic alterations in the 6q24 region are a significant cause of TNDM in the studied cohort.
  • MS-MLPA is an effective technique for diagnosing TNDM and identifying imprinting defects.
  • Future diagnostic strategies should include early methylation analysis and trio-based genetic testing for comprehensive NDM diagnosis and management.

Keywords:
6q24MS-MLPATNDMmethylation

More Related Videos

Characterization of Metabolic Status in Nonhuman Primates with the Intravenous Glucose Tolerance Test06:59

Characterization of Metabolic Status in Nonhuman Primates with the Intravenous Glucose Tolerance Test

Published on: November 13, 2016

11.4K
A High-Throughput Electrochemiluminescence 7-Plex Assay Simultaneously Screening for Type 1 Diabetes and Multiple Autoimmune Diseases06:50

A High-Throughput Electrochemiluminescence 7-Plex Assay Simultaneously Screening for Type 1 Diabetes and Multiple Autoimmune Diseases

Published on: May 29, 2020

3.0K

Related Concept Videos

Pathophysiology of Diabetes01:20

Pathophysiology of Diabetes

Diabetes mellitus is a chronic metabolic disorder characterized by hyperglycemia. The four categories of diabetes are type 1 diabetes, type 2 diabetes, other specific types of diabetes, and gestational diabetes.
Type 1 diabetes is characterized by autoimmune-mediated destruction of pancreatic β cells, with environmental factors potentially triggering this process in genetically susceptible individuals. Despite many not having a family history, certain genes increase susceptibility,...
3.1K
Glucose Transporters01:27

Glucose Transporters

Glucose transporters facilitate the transport of glucose across the cell membrane. In addition to glucose, some glucose transporters can also aid the movement of other hexoses such as fructose, mannose, and galactose.
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
27.1K
Diabetes: Symptoms, Diagnosis, and Complications01:15

Diabetes: Symptoms, Diagnosis, and Complications

For most patients, experiencing several weeks of polyuria, polydipsia, fatigue, and significant weight loss may indicate the presence of diabetes. Furthermore, adults displaying the phenotypic appearance of type 2 diabetes (particularly those who are obese and not initially insulin-requiring), may have islet cell autoantibodies, suggesting autoimmune-mediated β cell destruction and a diagnosis of latent autoimmune diabetes of adults (LADA). The categorization of glucose homeostasis is...
2.0K
Diabetes Mellitus: Type 2 and Gestational01:22

Diabetes Mellitus: Type 2 and Gestational

Type 2 diabetes, characterized by insulin resistance, arises when the insulin receptors on cells lose responsiveness to insulin, diminishing the cell's capacity to take up glucose, resulting in elevated blood glucose levels. To receive a diagnosis of Type 2 diabetes, a series of blood glucose tests are necessary to assess whether the blood glucose falls within normal parameters. If the result is out of the normal range, a patient may be diagnosed as prediabetic or diabetic, depending on the...
4.3K
Diabetes Mellitus: Overview and Type I Subtype01:22

Diabetes Mellitus: Overview and Type I Subtype

Diabetes mellitus is a chronic metabolic disorder characterized by high blood glucose levels due to inadequate insulin production, insulin resistance, or both. The condition affects millions worldwide and can significantly impact their health and quality of life.
Type 1 diabetes is an autoimmune disease in which the immune system mistakenly attacks and destroys the insulin-producing beta cells in the pancreas. As a result, the body is unable to produce sufficient insulin, and individuals with...
4.8K
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
691