Three novel pathogenic mutations in KATP channel genes and somatic imprinting alterations of the 11p15 region in pancreatic tissue in patients with congenital hyperinsulinism

Hormone Research in Pædiatrics
Beom Hee LeeHan-Wook Yoo

Abstract

This study was performed to investigate the molecular pathology underlying focal and diffuse congenital hyperinsulinism (CHI). The ABCC8 and KCNJ11 genes were analyzed in 3 patients with focal CHI and in 1 patient with diffuse CHI. Immunohistochemistry, real-time PCR, methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) and microsatellite marker analyses of the 11p15 region were performed on both normal tissues and adenomatous hyperplasia lesions. The 3 patients with focal CHI harbored paternally inherited ABCC8 or KCNJ11 mutations. Compound heterozygous ABCC8 mutations were identified in the patient with diffuse CHI. In the 3 patients with focal CHI, homozygous ABCC8 or KCNJ11 mutations were identified within the lesions. MLPA and real-time PCR revealed the presence of two copies of 11p15. MS-MLPA and microsatellite analyses demonstrated abnormal imprinting patterns and focal loss of maternal 11p13-15 within the lesions. In contrast, parental heterozygosity was preserved in the normal tissue. In the patient with diffuse CHI, the two ABCC8 mutations were conserved, and imprinting patterns at 11p15 were normal. The epigenetic alteration at the 11p15 region plays a central role in developing focal CHI b...Continue Reading

Citations

Dec 3, 2016·Orphanet Journal of Rare Diseases·Maria Salomon-EstebanezIndraneel Banerjee
Jun 1, 2021·Case Reports in Endocrinology·Somayyeh HashemianMohammad Reza Abbaszadegan

❮ Previous
Next ❯

Related Concepts

Related Feeds

Adenomatous Polyposis Coli

Adenomatous polyposis coli is a protein encoded by the APC gene and acts as a tumor suppressor. Discover the latest research on adenomatous polyposis coli here.

Related Papers

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc
Mariko SuchiCharles A Stanley
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Yuzhu YinJunwei Lin
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
Doga TurkkahramanNils Krone
© 2021 Meta ULC. All rights reserved