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BMJ Case Reports 2011; doi:10.1136/bcr.07.2011.4445
  • Unusual association of diseases/symptoms

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

  1. Jack Goldblatt1,2
  1. 1School of Paediatrics and Child Health, University of Western Australia, Perth, Australia
  2. 2Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, Australia
  1. Correspondence to Dr Gareth Baynam, gareth.baynam{at}health.wa.gov.au

Summary

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.

Footnotes

  • Competing interests None.

  • Patient consent Obtained.

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