Baynam Gareth, Schofield Lyn, Goldblatt Jack
School of Paediatrics and Child Health, University of Western Australia, Perth, Australia.
BMJ Case Rep. 2011 Sep 19;2011:bcr0720114445. doi: 10.1136/bcr.07.2011.4445.
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.
根据肿瘤易感性与体细胞过度生长之间的相互关系，作者报告了一名患有家族性丝氨酸苏氨酸激酶11（STK11）突变且具有类索托斯综合征特征的男孩。作者认为，类似于磷酸酶和张力蛋白同源物突变，STK11突变可能易导致体细胞过度生长。在少数情况下，这可能导致索托斯综合征的拟表型。如果得到证实，这一观察结果可能会为肿瘤易感性和过度生长综合征的分子病因提供见解。
