A child with an STK11 mutation and Sotos syndrome-like features: can STK11 mutations produce a Sotos syndrome phenocopy?
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.
School of Paediatrics and Child Health, University of Western Australia, Perth, Australia. gareth.baynam@health.wa.gov.au
Gareth
G
Baynam
Lyn
L
Schofield
Jack
J
Goldblatt
D000091162:AMP-Activated Protein Kinase Kinases; D002675:Child, Preschool; D003937:Diagnosis, Differential; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D058495:Sotos Syndrome / Q000175:diagnosis / Q000235:genetics*
D017346:Protein Serine-Threonine Kinases; C109790:STK11 protein, human; D000091162:AMP-Activated Protein Kinase Kinases