Hypoglycaemia represents a clinically significant manifestation of PIK3CA- and CCND2-associated segmental overgrowth

J H McDermott, N Hickson, I Banerjee, P G Murray, D Ram, K Metcalfe, J Clayton-Smith, S Douzgou

Research output: Contribution to journalArticlepeer-review

Abstract

The PI3K-AKT signalling cascade has a highly conserved role in a variety of processes including cell growth and glucose homoeostasis. Variants affecting this pathway can lead to one of several segmental overgrowth disorders. These conditions are genetically heterogeneous and require tailored, multidisciplinary involvement throughout life. Hypoglycaemia is common in other overgrowth syndromes but has been described only sporadically in association with PIK3CA and CCND2 variants. We report a cohort of 6 children with megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes who developed clinically significant hypoglycaemia. Based on our findings, we suggest that segmental overgrowth patients should be screened for low blood glucose levels during childhood and there should be early specialist endocrine review in any children who develop hypoglycaemia.

Original languageEnglish
Pages (from-to)687-692
Number of pages6
JournalClinical Genetics
Volume93
Issue number3
Early online date23 Sept 2017
DOIs
Publication statusPublished - 5 Feb 2018

Keywords

  • Adolescent
  • Alleles
  • Child
  • Child, Preschool
  • Class I Phosphatidylinositol 3-Kinases/genetics
  • Cyclin D2/genetics
  • Female
  • Genetic Association Studies/methods
  • Genetic Predisposition to Disease
  • Genetic Variation
  • Genotype
  • Humans
  • Hypoglycemia/diagnosis
  • Infant
  • Male
  • Phenotype
  • Phosphatidylinositol 3-Kinases/genetics
  • Proto-Oncogene Proteins c-akt/genetics
  • Signal Transduction
  • Young Adult

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