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一个庞大的患有马凡综合征的意大利家系，其FBN1基因存在一个新的突变。

An enormous Italian pedigree of Marfan syndrome with a novel mutation in the FBN1 gene.

作者信息

Daneshjoo Omid, Salehi Leila B, Pizzuti Antonio, Novelli Giuseppe, Sangiuolo Federica

机构信息

Medical Genetics Group Department of Experimental Medicine "Sapienza'' University of Rome Rome Italy.

U.O.C. of Medical Genetics Policlinic of Tor Vergata Rome Italy.

出版信息

Clin Case Rep. 2020 Jun 2;8(8):1445-1451. doi: 10.1002/ccr3.2881. eCollection 2020 Aug.

DOI:10.1002/ccr3.2881
PMID:32884772
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7455403/
Abstract

We characterize a large Italian family presenting with Marfan syndrome (MFS), where the same NM_000138.4:c.6872-1G > T splice site mutation in the FBN1 gene was detected in 37 affected individuals with different pathological phenotypes. Further studies on such a large pedigree could identify other genetic factors that influence MFS manifestation.

摘要

我们对一个患有马凡综合征（MFS）的大型意大利家族进行了特征分析，在该家族中，37名具有不同病理表型的患病个体中均检测到FBN1基因存在相同的NM_000138.4:c.6872-1G>T剪接位点突变。对如此庞大的家系进行进一步研究，可能会识别出影响马凡综合征表现的其他遗传因素。

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