在无考登综合征家族史情况下儿童期PTEN突变的临床表现。
Clinical presentation of PTEN mutations in childhood in the absence of family history of Cowden syndrome.
作者信息
Busa T, Milh M, Degardin N, Girard N, Sigaudy S, Longy M, Olshchwang S, Sobol H, Chabrol B, Philip N
机构信息
Unité de génétique clinique, APHM, CHU Timone-Enfants, France.
Service de neurologie pédiatrique, APHM, CHU Timone-Enfants, France.
出版信息
Eur J Paediatr Neurol. 2015 Mar;19(2):188-92. doi: 10.1016/j.ejpn.2014.11.012. Epub 2014 Dec 16.
BACKGROUND
PTEN gene (MIM 601628) is a tumor suppressor gene implicated in PTEN hamartoma tumor syndromes (PHTS) including Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, and Proteus-like syndrome. Bannayan-Riley-Ruvalcaba syndrome is considered as the pediatric form of PHTS. More recently, children presenting autism spectrum disorders with macrocephaly (ASD-M) have been reported.
METHODS
We report clinical data from seven patients diagnosed in childhood with a PTEN germline mutation, excluding cases of familial Cowden syndrome.
RESULTS
This study underlines the variability of phenotype associated with PTEN mutations diagnosed at pediatric age. Most of the patients did not fulfill usual criteria of Bannayan-Riley-Ruvalcaba syndrome or ASD-M.
CONCLUSION
PTEN testing should be considered in any child presenting with severe macrocephaly (>+4SD) and another feature of PHTS.
背景
PTEN基因（MIM 601628）是一种肿瘤抑制基因，与PTEN错构瘤肿瘤综合征（PHTS）相关，包括考登综合征、巴纳扬-莱利-鲁瓦尔卡巴综合征和变形杆菌样综合征。巴纳扬-莱利-鲁瓦尔卡巴综合征被认为是PHTS的儿童形式。最近，有报道称患有巨头畸形的自闭症谱系障碍儿童（ASD-M）。
方法
我们报告了7例童年期诊断为PTEN种系突变患者的临床数据，排除了家族性考登综合征病例。
结果
本研究强调了儿童期诊断的与PTEN突变相关的表型变异性。大多数患者不符合巴纳扬-莱利-鲁瓦尔卡巴综合征或ASD-M的常见标准。
结论
对于任何患有严重巨头畸形（>+4SD）和PHTS其他特征的儿童，都应考虑进行PTEN检测。
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