Whole-exome sequencing identifies a potential TTN mutation in a multiplex family with inguinal hernia

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• 作者：E. Mihailov ; T. Nikopensius ; A. Reigo ; C. Nikkolo ; M. Kals ; K. Aruaas ; L. Milani…
• 关键词：Inguinal hernia ; Genetics ; Titin ; Whole ; exome sequencing
• 刊名：Hernia
• 出版年：2017
• 出版时间：February 2017
• 年：2017
• 卷：21
• 期：1
• 页码：95-100
• 全文大小：1352KB
• 刊物类别：Medicine
• 刊物主题：Abdominal Surgery;
• 出版者：Springer Paris
• ISSN：1248-9204
• 卷排序：21

文摘

PurposeInguinal hernia repair is one of the most common procedures in general surgery. Males are seven times more likely than females to develop a hernia and have a 27 % lifetime ‘risk’ of inguinal hernia repair. Several studies have demonstrated that a positive family history is an important risk factor for the development of primary inguinal hernia, which indicates that genetic factors may play important roles in the etiology of the disease. So far, the contribution of genetic factors and underlying mechanisms for inguinal hernia remain largely unknown. The aim of this study was to investigate a multiplex Estonian family with inguinal hernia across four generations.