青少年息肉病：与BMPR1A突变携带者相比，MADH4突变携带者中更常见大量胃息肉。

Juvenile polyposis: massive gastric polyposis is more common in MADH4 mutation carriers than in BMPR1A mutation carriers.

作者信息

Friedl Waltraut, Uhlhaas Siegfried, Schulmann Karsten, Stolte Manfred, Loff Steffan, Back Walter, Mangold Elisabeth, Stern Martin, Knaebel Hanns-Peter, Sutter Christian, Weber Ruthild G, Pistorius Steffen, Burger Bettina, Propping Peter

机构信息

Institute of Human Genetics, University of Bonn, Wilhelmstrasse 31, Germany.

出版信息

Hum Genet. 2002 Jul;111(1):108-11. doi: 10.1007/s00439-002-0748-9. Epub 2002 Jun 13.

DOI:10.1007/s00439-002-0748-9

PMID:12136244

Abstract

Juvenile polyposis syndrome (JPS) is an autosomal dominant predisposition to multiple juvenile polyps in the gastrointestinal tract. Germline mutations in the MADH4 or BMPR1A genes have been found to be causative of the disease in a subset of JPS patients. So far, no genotype-phenotype correlation has been reported. We examined 29 patients with the clinical diagnosis of JPS for germline mutations in the MADH4 or BMPR1A genes and identified MADH4 mutations in seven (24%) and BMPR1A mutations in five patients (17%). A remarkable prevalence of massive gastric polyposis was observed in patients with MADH4 mutations when compared with patients with BMPR1A mutations or without identified mutations. This is the first genotype-phenotype correlation observed in JPS.

摘要

青少年息肉病综合征（JPS）是一种常染色体显性遗传病，易导致胃肠道出现多个青少年息肉。已发现MADH4或BMPR1A基因的种系突变是部分JPS患者发病的原因。迄今为止，尚未有关于基因型与表型相关性的报道。我们对29例临床诊断为JPS的患者进行了MADH4或BMPR1A基因种系突变检测，发现7例（24%）存在MADH4突变，5例（17%）存在BMPR1A突变。与存在BMPR1A突变或未发现突变的患者相比，MADH4突变患者中胃息肉大量增生的发生率显著更高。这是在JPS中观察到的首个基因型与表型的相关性。