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患有班纳扬-莱利-鲁瓦尔卡巴综合征表型患者的PTEN基因突变

Mutations of PTEN in patients with Bannayan-Riley-Ruvalcaba phenotype.

作者信息

Longy M, Coulon V, Duboué B, David A, Larrègue M, Eng C, Amati P, Kraimps J L, Bottani A, Lacombe D, Bonneau D

机构信息

Laboratoire d'Oncologie Moléculaire, Institut Bergonié, Bordeaux, France.

出版信息

J Med Genet. 1998 Nov;35(11):886-9. doi: 10.1136/jmg.35.11.886.

DOI:10.1136/jmg.35.11.886
PMID:9832032
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1051478/
Abstract

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.

摘要

我们报告了PTEN基因中的三个新突变，该基因与考登病相关。这三个新突变来自三个无亲缘关系家庭的五名患有巴纳扬-莱利-鲁瓦尔卡巴综合征的患者。这一发现证实，考登病（一种显性癌症易感综合征）和巴纳扬-莱利-鲁瓦尔卡巴综合征（其特征包括巨头畸形、多发性脂肪瘤、肠道错构瘤性息肉、血管畸形和阴茎色素沉着斑）是位于10号染色体q臂上PTEN基因座的等位基因疾病。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f2a0/1051478/799f04c29c05/jmedgene00240-0008-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f2a0/1051478/799f04c29c05/jmedgene00240-0008-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f2a0/1051478/799f04c29c05/jmedgene00240-0008-a.jpg

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本文引用的文献

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Deletion of PTEN in a patient with Bannayan-Riley-Ruvalcaba syndrome suggests allelism with Cowden disease.
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