Inheritance of a paternal ABCC8 variant and maternal loss of heterozygosity at 11p15 retrospectively unmasks the etiology in a case of Congenital hyperinsulinism

Caroline M. Joyce; Jayne A. Houghton; Domhnall J. O’Halloran; Paula M. O’Shea; Susan M. O’Connell

doi:10.1002/ccr3.2885

Clinical Case Reports (Jul 2020)

Inheritance of a paternal ABCC8 variant and maternal loss of heterozygosity at 11p15 retrospectively unmasks the etiology in a case of Congenital hyperinsulinism

Caroline M. Joyce,
Jayne A. Houghton,
Domhnall J. O’Halloran,
Paula M. O’Shea,
Susan M. O’Connell

Affiliations

Caroline M. Joyce: Department of Clinical Biochemistry Cork University Hospital Cork Ireland
Jayne A. Houghton: Exeter Genomics Laboratory Royal Devon and Exeter NHS Foundation Trust Exeter UK
Domhnall J. O’Halloran: Department of Endocrinology Cork University Hospital Cork Ireland
Paula M. O’Shea: Department of Clinical Biochemistry University College Hospital Galway Ireland
Susan M. O’Connell: Department of Paediatrics and Child Health Cork University Hospital Cork Ireland

DOI: https://doi.org/10.1002/ccr3.2885
Journal volume & issue: Vol. 8, no. 7
pp. 1217 – 1222

Abstract

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Abstract Advances in genomics and 18F‐DOPA PET‐CT imaging have transformed the management of infants with Congenital Hyperinsulinism. Preoperative diagnosis of focal hyperinsulinism permits limited pancreatectomy with improved clinical outcomes while knowledge of the molecular etiology informs genetic counseling and provides a more accurate recurrence risk to families.

Published in Clinical Case Reports

ISSN: 2050-0904 (Online)
Publisher: Wiley
Country of publisher: United Kingdom
LCC subjects: Medicine: Medicine (General)
Website: https://onlinelibrary.wiley.com/journal/20500904

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Abstract

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