A child with an STK11 mutation and Sotos syndrome-like features: can STK11 mutations produce a Sotos syndrome phenocopy?

BMJ Case Rep. 2011 Sep 19:2011:bcr0720114445. doi: 10.1136/bcr.07.2011.4445.

Abstract

In accordance with interrelationships between tumour predisposition and somatic overgrowth, the authors present a boy with a familial serine threonine kinase 11 (STK11) mutation and Sotos syndrome-like features. The authors suggest that, analogous to phosphatase and tensin homolog mutations, STK11 mutations may predispose to somatic overgrowth. In a minority of instances, this may result in a Sotos syndrome phenocopy. If substantiated, this observation may yield insights into both the molecular causes of tumour predisposition and overgrowth syndromes.

Publication types

  • Case Reports

MeSH terms

  • AMP-Activated Protein Kinase Kinases
  • Child, Preschool
  • Diagnosis, Differential
  • Humans
  • Male
  • Mutation
  • Pedigree
  • Protein Serine-Threonine Kinases / genetics*
  • Sotos Syndrome / diagnosis
  • Sotos Syndrome / genetics*

Substances

  • Protein Serine-Threonine Kinases
  • STK11 protein, human
  • AMP-Activated Protein Kinase Kinases