A child with an STK11 mutation and Sotos syndrome-like features: can STK11 mutations produce a Sotos syndrome phenocopy?. (20th September 2011)

• Record Type: Journal Article
• Authors: Baynam, Gareth; Schofield, Lyn; Goldblatt, Jack
• Is Part Of: BMJ case reports. Volume 2011
• Publication Date: 2011-09-20
• Subjects: Medicine -- Case studies -- Periodicals; 610.5
• DOI: 10.1136/bcr.07.2011.4445
• Languages: English
• ISSNs: 1757-790X

Abstract

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.