Mutations of PTEN in patients with Bannayan-Riley-Ruvalcaba phenotype
Mutations of PTEN in patients with Bannayan-Riley-Ruvalcaba phenotype
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DOI：
10.1136/jmg.35.11.886
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发表时间：
1998-11-01
影响因子：
4
通讯作者：
Bonneau, D
中科院分区：
文献类型：
--
作者：
Longy, M;Coulon, V;Bonneau, D
我们报告了 PTEN 的三个新突变，PTEN 是来自三个无关家庭的 5 名 Bannayan-Riley-Ruvalcaba 综合征患者导致 Cowden 病的基因。这一发现证实，Cowden 病（一种显性癌症诱发综合征）和 Bannayan-Riley-Ruvalcaba 综合征（包括大头畸形、多发性脂肪瘤、肠错构瘤性息肉、血管畸形和阴茎色素斑）是 10q 染色体上 PTEN 位点的等位基因疾病。
We report three new mutations in PTEN, the gene responsible for Cowden disease in five patients with Bannayan-Riley-Ruvalcaba syndrome from three unrelated families. This finding confirms that Cowden disease, a dominant cancer predisposing syndrome, and Bannayan-Riley-Ruvalcaba syndrome, which includes macrocephaly, multiple lipomas, intestinal hamartomatous polyps, vascular malformations, and pigmented macules of the penis, are allelic disorders at the PTEN locus on chromosome 10q.