Analysis of prevalence and degree of macrocephaly in patients with germline PTEN mutations and of brain weight in Pten knock-in murine model
Analysis of prevalence and degree of macrocephaly in patients with germline PTEN mutations and of brain weight in Pten knock-in murine model
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DOI：
10.1038/ejhg.2011.20
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发表时间：
2011-07-01
影响因子：
5.2
通讯作者：
Eng, Charis
中科院分区：
文献类型：
--
作者：
Mester, Jessica L.;Tilot, Amanda K.;Eng, Charis
PTEN错构瘤肿瘤综合征（PHTS）包括考登综合征（CS）、Bannayan-Riley-Ruvalcaba综合征（BRRS）和由PTEN肿瘤抑制基因的种系突变引起的其它病症。虽然在CS和BRRS中均发现了可能由大头畸形引起的大头畸形，但尚未正式评估PHTS的患病率和程度。我们对181例发现有致病性生殖系PTEN突变的患者进行了前瞻性巢式系列研究，评估了头部大小。要求所有参与者提供包括枕额围（OFC）测量在内的临床数据。在161个可评估的PHTS个体中，94%存在大头畸形。患者
PTEN Hamartoma Tumour Syndrome (PHTS) includes Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS), and other conditions resulting from germline mutation of the PTEN tumour suppressor gene. Although macrocephaly, presumably due to megencephaly, is found in both CS and BRRS, the prevalence and degree have not been formally assessed in PHTS. We evaluated head size in a prospective nested series of 181 patients found to have pathogenic germline PTEN mutations. Clinical data including occipital-frontal circumference (OFC) measurement were requested for all participants. Macrocephaly was present in 94% of 161 evaluable PHTS individuals. In patients