scholarly journals Concurrent Course of Transient Neonatal Diabetes with Cholestasis and Paucity of Interlobular Bile Ducts: A Case Report

2009 ◽  
Vol 12 (5) ◽  
pp. 417-420 ◽  
Author(s):  
Alan P. Kenny ◽  
Nancy A. Crimmins ◽  
Deborah J.G. Mackay ◽  
Robert J. Hopkin ◽  
Kevin E. Bove ◽  
...  
Keyword(s):  
Bile Ducts ◽  
Time Course ◽  
Wide Spectrum ◽  
Uniparental Disomy ◽  
Neonatal Diabetes ◽  
Alagille Syndrome ◽  
Chromosome 6 ◽  
Similar Time ◽  
Transient Neonatal Diabetes ◽  
First Time

We report for the first time a patient with both transient neonatal diabetes mellitus (TNDM) and idiopathic neonatal cholestasis, with both features resolving over a similar time course. Cholestasis was due to paucity of interlobular bile ducts (PILBD). Genetic analysis was consistent with a uniparental disomy of chromosome 6. Paucity of interlobular bile ducts is common in Alagille syndrome but also occurs by unknown mechanisms in a wide spectrum of other diseases. We propose a shared explanation for this patient's TNDM and PILBD mediated by the noted chromosomal abnormality. We suggest that hepatobiliary function be evaluated in patients with TNDM to determine the prevalence and course of cholestasis of the disease.

scholarly journals Paternal uniparental disomy for chromosome 6 causes transient neonatal diabetes.

1997 ◽  
Vol 34 (2) ◽  
pp. 167-168 ◽  
Author(s):  
M L Whiteford ◽  
A Narendra ◽  
M P White ◽  
A Cooke ◽  
A G Wilkinson ◽  
...  
Keyword(s):  
Uniparental Disomy ◽  
Neonatal Diabetes ◽  
Chromosome 6 ◽  
Transient Neonatal Diabetes ◽  
Paternal Uniparental Disomy

scholarly journals Duplication 6q24: More Than Just Diabetes

2020 ◽  
Vol 4 (5) ◽  
Author(s):  
Rachel H Gore ◽  
Maria Eleni Nikita ◽  
Paula G Newton ◽  
Rebecca G Carter ◽  
Jeanine Reyes-Bautista ◽  
...  
Keyword(s):  
Chromosomal Abnormalities ◽  
Uniparental Disomy ◽  
Clinical Importance ◽  
Neonatal Diabetes ◽  
Increased Risk ◽  
Chromosome 6Q24 ◽  
History Of ◽  
Transient Neonatal Diabetes ◽  
Neonatal Hyperglycemia ◽  
Methylation Patterns

Abstract Chromosome 6q24-related transient neonatal diabetes mellitus is characterized by intrauterine growth restriction and low birth weight, with neonatal hyperglycemia resolving by 18 months and an increased risk for type 2 diabetes in adulthood. Molecularly, it is caused by overexpression of the 6q24 imprinted chromosomal region due to a duplication, uniparental disomy, or abnormal methylation. Conventional testing for this condition analyzes methylation patterns at the 6q24 locus but does not evaluate for the presence of other surrounding chromosomal abnormalities. We report a female with a history of neonatal hyperglycemia due to a paternally inherited duplication at chromosomal location 6q24. She subsequently presented to the pediatric genetics clinic at 15 months of age with developmental delay and abnormal balance. Microarray analysis identified a larger 14 Mb chromosomal duplication from 6q24 to 6q25.2, consistent with a diagnosis of duplication 6q syndrome. This case highlights the clinical importance of pursuing further genetic evaluation in patients diagnosed with chromosome 6q24-related neonatal hyperglycemia via targeted methylation-specific multiplex ligation-dependent probe amplification analysis identifying a duplication in this region. Early identification and intervention can improve developmental outcomes for patients with larger chromosome 6q duplications.

Significance of genetic testing for paternal uniparental disomy of chromosome 6 in neonatal diabetes mellitus

1999 ◽  
Vol 134 (1) ◽  
pp. 42-46 ◽  
Author(s):  
Susan L. Christian ◽  
Barry H. Rich ◽  
Charli Loebl ◽  
Jeannette Israel ◽  
Rohitkumar Vasa ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Genetic Testing ◽  
Uniparental Disomy ◽  
Neonatal Diabetes ◽  
Neonatal Diabetes Mellitus ◽  
Chromosome 6 ◽  
Paternal Uniparental Disomy

Improved molecular diagnosis of patients with neonatal diabetes using a combined next-generation sequencing and MS-MLPA approach

2016 ◽  
Vol 29 (5) ◽  
Author(s):  
Gorka Alkorta-Aranburu ◽  
Madina Sukhanova ◽  
David Carmody ◽  
Trevor Hoffman ◽  
Latrice Wysinger ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Molecular Diagnosis ◽  
Neonatal Diabetes ◽  
Unknown Etiology ◽  
Chromosome 6 ◽  
Next Generation ◽  
Transient Neonatal Diabetes ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing ◽  
Parental Inheritance

Abstract: We evaluated a methylation-specific multiplex-ligation-dependent probe amplification (MS-MLPA) assay for the molecular diagnosis of transient neonatal diabetes mellitus (TNDM) caused by 6q24 abnormalities and assessed the clinical utility of using this assay in combination with next generation sequencing (NGS) analysis for diagnosing patients with neonatal diabetes (NDM).: We performed MS-MLPA in 18 control samples and 42 retrospective NDM cases with normal bi-parental inheritance of chromosome 6. Next, we evaluated 22 prospective patients by combining NGS analysis of 11 NDM genes and the MS-MLPA assay.: 6q24 aberrations were identified in all controls and in 19% of patients with normal bi-parental inheritance of chromosome 6. The MS-MLPA/NGS combined approach identified a genetic cause in ~64% of patients with NDM of unknown etiology.MS-MLPA is a reliable method to identify all known 6q24 abnormalities and comprehensive testing of all causes reveals a causal mutation in ~64% of patients.

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