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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.

DOI:10.1086/504301
PMID:16685657
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1474102/
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。

相似文献

1
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。
Am J Hum Genet. 2006 Jun;78(6):1066-74. doi: 10.1086/504301. Epub 2006 Apr 14.
2
[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号染色体长臂内的连续基因缺失与婴儿期幼年性息肉病相关，反映了骨形态发生蛋白受体1A（BMPR1A）基因与磷酸酶及张力蛋白同源物（PTEN）肿瘤抑制基因之间的协同作用
Med Sci (Paris). 2006 Nov;22(11):912-3. doi: 10.1051/medsci/20062211912.
3
Deletion of PTEN and BMPR1A on chromosome 10q23 is not always associated with juvenile polyposis of infancy.10q23染色体上PTEN和BMPR1A的缺失并不总是与婴儿期幼年性息肉病相关。
Am J Hum Genet. 2006 Sep;79(3):593-6; author reply 596-7. doi: 10.1086/507151.
4
A new case with 10q23 interstitial deletion encompassing both PTEN and BMPR1A narrows the genetic region deleted in juvenile polyposis syndrome.一个新的病例存在 10q23 染色质间缺失，同时包含 PTEN 和 BMPR1A，这使得青少年息肉综合征中缺失的遗传区域变窄。
J Appl Genet. 2013 Feb;54(1):43-7. doi: 10.1007/s13353-012-0115-z. Epub 2012 Sep 21.
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Juvenile polyposis of infancy in a child with deletion of BMPR1A and PTEN genes: surgical approach.婴儿幼年性息肉病患儿中 BMPR1A 和 PTEN 基因缺失：手术方法。
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Overlap of Juvenile polyposis syndrome and Cowden syndrome due to de novo chromosome 10 deletion involving BMPR1A and PTEN: implications for treatment and surveillance.因涉及BMPR1A和PTEN的10号染色体新发缺失导致的青少年息肉病综合征与考登综合征重叠：对治疗和监测的意义
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Aggressive juvenile polyposis in children with chromosome 10q23 deletion.儿童染色体 10q23 缺失致侵袭性幼年性息肉病
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Juvenile polyposis and other intestinal polyposis syndromes with microdeletions of chromosome 10q22-23.幼年性息肉病和其他伴有 10q22-23 号染色体微缺失的肠息肉病综合征。
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9
Variable phenotypes associated with 10q23 microdeletions involving the PTEN and BMPR1A genes.与涉及PTEN和BMPR1A基因的10q23微缺失相关的可变表型。
Clin Genet. 2008 Aug;74(2):145-54. doi: 10.1111/j.1399-0004.2008.01026.x. Epub 2008 May 28.
10
Molecular classification of patients with unexplained hamartomatous and hyperplastic polyposis.不明原因错构瘤样和增生性息肉病患者的分子分类
JAMA. 2005 Nov 16;294(19):2465-73. doi: 10.1001/jama.294.19.2465.

引用本文的文献

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Hum Mutat. 2025 Feb 18;2025:7317429. doi: 10.1155/humu/7317429. eCollection 2025.
2
Gastrointestinal Malignancy: Genetic Implications to Clinical Applications.胃肠道恶性肿瘤：遗传与临床应用。
Cancer Treat Res. 2024;192:305-418. doi: 10.1007/978-3-031-61238-1_15.
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Successful treatment of juvenile polyposis of infancy with sirolimus: a case report.幼年性息肉病采用西罗莫司成功治疗：病例报告。
BMC Pediatr. 2024 Aug 23;24(1):544. doi: 10.1186/s12887-024-04994-7.
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A Bi-Institutional Study of Gastrointestinal and Hepatic Manifestations in Children With Hamartoma Tumor Syndrome.一项关于错构瘤肿瘤综合征患儿胃肠道和肝脏表现的双机构研究。
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SHH medulloblastoma and very early onset of bowel polyps in a child with hamartoma tumor syndrome.一名患有错构瘤肿瘤综合征的儿童出现SHH型髓母细胞瘤并很早发生肠息肉。
Front Mol Neurosci. 2023 Aug 24;16:1228389. doi: 10.3389/fnmol.2023.1228389. eCollection 2023.
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Hered Cancer Clin Pract. 2023 Jul 3;21(1):12. doi: 10.1186/s13053-023-00255-3.
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World J Gastroenterol. 2023 Feb 28;29(8):1304-1314. doi: 10.3748/wjg.v29.i8.1304.
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Considerations on diagnosis and surveillance measures of PTEN hamartoma tumor syndrome: clinical and genetic study in a series of Spanish patients.关于 PTEN 错构瘤肿瘤综合征的诊断和监测措施的思考：西班牙患者系列的临床和遗传学研究。
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本文引用的文献

1
Molecular classification of patients with unexplained hamartomatous and hyperplastic polyposis.不明原因错构瘤样和增生性息肉病患者的分子分类
JAMA. 2005 Nov 16;294(19):2465-73. doi: 10.1001/jama.294.19.2465.
2
Molecular karyotyping: array CGH quality criteria for constitutional genetic diagnosis.分子核型分析：用于先天性基因诊断的阵列比较基因组杂交质量标准
J Histochem Cytochem. 2005 Mar;53(3):413-22. doi: 10.1369/jhc.4A6436.2005.
3
Mutations in ZASP define a novel form of muscular dystrophy in humans.ZASP基因的突变在人类中定义了一种新型的肌肉萎缩症。
Ann Neurol. 2005 Feb;57(2):269-76. doi: 10.1002/ana.20376.
4
Pathological situations characterized by altered actin isoform expression.以肌动蛋白异构体表达改变为特征的病理情况。
J Pathol. 2004 Nov;204(4):386-95. doi: 10.1002/path.1635.
5
Multiplex PCR/liquid chromatography assay for detection of gene rearrangements: application to RB1 gene.用于检测基因重排的多重PCR/液相色谱分析：应用于RB1基因
Nucleic Acids Res. 2004 Oct 11;32(18):e139. doi: 10.1093/nar/gnh137.
6
BMP signaling inhibits intestinal stem cell self-renewal through suppression of Wnt-beta-catenin signaling.骨形态发生蛋白信号通过抑制Wnt-β-连环蛋白信号来抑制肠道干细胞的自我更新。
Nat Genet. 2004 Oct;36(10):1117-21. doi: 10.1038/ng1430. Epub 2004 Sep 19.
7
Genetic conditions associated with intestinal juvenile polyps.与肠道幼年性息肉相关的遗传病症。
Am J Med Genet C Semin Med Genet. 2004 Aug 15;129C(1):44-55. doi: 10.1002/ajmg.c.30020.
8
The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations.少年息肉病中MADH4和BMPR1A突变的患病率以及BMPR2、BMPR1B和ACVR1突变的缺失情况。
J Med Genet. 2004 Jul;41(7):484-91. doi: 10.1136/jmg.2004.018598.
9
Gamma synuclein, a novel heat-shock protein-associated chaperone, stimulates ligand-dependent estrogen receptor alpha signaling and mammary tumorigenesis.γ-突触核蛋白是一种新型的热休克蛋白相关伴侣蛋白，可刺激配体依赖性雌激素受体α信号传导及乳腺肿瘤发生。
Cancer Res. 2004 Jul 1;64(13):4539-46. doi: 10.1158/0008-5472.CAN-03-3650.
10
Will the real Cowden syndrome please stand up (again)? Expanding mutational and clinical spectra of the PTEN hamartoma tumour syndrome.真正的考登综合征（再次）请站出来好吗？PTEN错构瘤肿瘤综合征的突变谱和临床谱的扩展
J Med Genet. 2004 May;41(5):323-6. doi: 10.1136/jmg.2004.018036.