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Genetics and heredity, Biology
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.
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
Genetics and Genomics Commons, Medical Biochemistry Commons, Medical Genetics Commons, Medical Molecular Biology Commons
Archives of Disease in Childhood 1998, Vol 79 pp445-447 doi:10.1136/adc.79.5.445