An ABCC8 Gene Mutation and Mosaic Uniparental Isodisomy Resulting in Atypical Diffuse Congenital Hyperinsulinism
Open Access
- 1 January 2008
- journal article
- case report
- Published by American Diabetes Association in Diabetes
- Vol. 57 (1) , 259-263
- https://doi.org/10.2337/db07-0998
Abstract
OBJECTIVE— Congenital hyperinsulinism (CHI) may be due to diffuse or focal pancreatic disease. The diffuse form is associated with an increase in the size of β-cell nuclei throughout the whole of the pancreas and most commonly results from recessive ATP-sensitive K+ channel (KATP channel) mutations. Focal lesions are the consequence of somatic uniparental disomy for a paternally inherited KATP channel mutation with enlargement of the β-cell nuclei confined to the focal lesion. Some “atypical” cases defy classification and show pancreatic β-cell nuclear enlargement confined to discrete regions of the pancreas. We investigated an atypical case with normal morphology within the tail of the pancreas but occasional enlarged endocrine nuclei in parts of the body and head.Keywords
This publication has 20 references indexed in Scilit:
- Mosaic Paternal Uniparental Isodisomy and an ABCC8 Gene Mutation in a Patient With Permanent Neonatal Diabetes and HemihypertrophyDiabetes, 2008
- Permanent Neonatal Diabetes Caused by Dominant, Recessive, or Compound Heterozygous SUR1 Mutations with Opposite Functional EffectsAmerican Journal of Human Genetics, 2007
- Chromosome 11 segmental paternal isodisomy in amniocytes from two fetuses with omphalocoele: new highlights on phenotype-genotype correlations in Beckwith-Wiedemann syndromeJournal of Medical Genetics, 2007
- Mosaic maternal uniparental isodisomy for chromosome 7q21-qterClinical Genetics, 2006
- A fascination with chromosome rescue in uniparental disomy: Mendelian recessive outlaws and imprinting copyrights infringementsEuropean Journal of Human Genetics, 2006
- Infantile Hyperinsulinism Associated with Enteropathy, Deafness and Renal Tubulopathy: Clinical Manifestations of a Syndrome Caused by a Contiguous Gene Deletion Located on Chromosome 11pJournal of Pediatric Endocrinology and Metabolism, 2004
- Unbalanced Expression of 11p15 Imprinted Genes in Focal Forms of Congenital Hyperinsulinism: Association with a Reduction to Homozygosity of a Mutation in ABCC8 or KCNJ11The American Journal of Pathology, 2001
- Hyperinsulinism: molecular aetiology of focal diseaseArchives of Disease in Childhood, 1998
- A nonsense mutation in the inward rectifier potassium channel gene, Kir6.2, is associated with familial hyperinsulinismDiabetes, 1997
- Mutation of the pancreatic islet inward rectifier Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancyHuman Molecular Genetics, 1996