10号染色体长臂上的相邻基因缺失与婴儿幼年性息肉病相关，这反映了骨形态发生蛋白受体1A（BMPR1A）基因和抑癌基因PTEN之间的协同作用。
Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes.
作者信息
Delnatte Capucine, Sanlaville Damien, Mougenot Jean-Francois, Vermeesch Joris-Robert, Houdayer Claude, Blois Marie-Christine de, Genevieve David, Goulet Olivier, Fryns Jean-Pierre, Jaubert Francis, Vekemans Michel, Lyonnet Stanislas, Romana Serge, Eng Charis, Stoppa-Lyonnet Dominique
机构信息
Department of Genetics, Institut Curie, Paris, France.
出版信息
Am J Hum Genet. 2006 Jun;78(6):1066-74. doi: 10.1086/504301. Epub 2006 Apr 14.
Abstract
We describe four unrelated children who were referred to two tertiary referral medical genetics units between 1991 and 2005 and who are affected with juvenile polyposis of infancy. We show that these children are heterozygous for a germline deletion encompassing two contiguous genes, PTEN and BMPR1A. We hypothesize that juvenile polyposis of infancy is caused by the deletion of these two genes and that the severity of the disease reflects cooperation between these two tumor-suppressor genes.
摘要
我们描述了1991年至2005年间被转诊至两个三级转诊医学遗传学单位的四名无血缘关系的儿童，他们患有婴儿期幼年性息肉病。我们发现这些儿童在一个包含两个相邻基因PTEN和BMPR1A的种系缺失中为杂合子。我们推测婴儿期幼年性息肉病是由这两个基因的缺失引起的，并且疾病的严重程度反映了这两个肿瘤抑制基因之间的协同作用。
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Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes.10号染色体长臂上的相邻基因缺失与婴儿幼年性息肉病相关，这反映了骨形态发生蛋白受体1A（BMPR1A）基因和抑癌基因PTEN之间的协同作用。
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2
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本文引用的文献
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