A child with an STK11 mutation and Sotos syndrome-like features: can STK11 mutations produce a Sotos syndrome phenocopy?
- 1School of Paediatrics and Child Health, University of Western Australia, Perth, Australia
- 2Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, Australia
- 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
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Competing interests None.
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Patient consent Obtained.
