Title

Authors

Fergus Ryan, Technological University DublinFollow
D Devaney, The Childrens Hospital, Temple Street
Caroline Joyce, National Centre for Medical Genetics
A Nestorowicz, Washington University School of Medicine in St. Louis
M Permutt, Washington University School of Medicine in St. Louis
Benjamin Glaser, Hebrew University, Hadassah Medical School
Paul Thornton, The Childrens Hospital, Temple Street
David E. Barton, National Centre for Medical Genetics

Document Type

Article

Rights

Available under a Creative Commons Attribution Non-Commercial Share Alike 4.0 International Licence

Disciplines

Genetics and heredity, Biology

Publication Details

Archives of Disease in Childhood 1998, Vol 79 pp445-447 doi:10.1136/adc.79.5.445

Abstract

Persistent hypoglycaemia in infancy is most commonly caused by hyperinsulinism. A case is reported of the somatic loss of the maternal 11p in an insulin secreting focal adenoma in association with a germline SUR-1mutation on the paternal allele in a baby boy with hyperinsulinism diagnosed at 49 days old. A reduction to homozygosity of an SUR-1 mutation is proposed as a critical part of the cause of focal hyperinsulinism.

DOI

10.1136/adc.79.5.445

Recommended Citation

Ryan, F., Devaney, D., Joyce, C.,Nestorowicz,,A.,Permutt,M.,Glaser, B., Barton, D., Thornton, P.:Hyperinsulinism: molecular aetiology of focal disease. Archive of Diseases in Childhood.,1998, Vol.7, pp445-447 doi:10.1136/adc.79.5.445