期刊
JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION
卷 75, 期 1, 页码 56-58出版社
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1097/MPG.0000000000003470
关键词
familial polyposis; FOCAD; juvenile polyposis syndrome
资金
- Alex's Lemonade Stand Foundation
- St. Baldrick's Foundation
- Audrey Evans Endowed Chair
Juvenile polyposis syndrome (JPS) is a childhood polyposis syndrome with a high risk of gastrointestinal cancer. Inactivation of the FOCAD gene may be the genetic cause of JPS.
Juvenile polyposis syndrome (JPS) is a childhood polyposis syndrome with up to a 50% lifetime risk of gastrointestinal cancer. Germline pathogenic variants in BMPR1A and SMAD4 are responsible for around 40% of cases of JPS, but for the majority of individuals, the underlying genetic cause is unknown. We identified a family for which polyposis spanned four generations, and the proband had a clinical diagnosis of JPS. Next-generation sequencing was conducted, followed by Sanger sequencing confirmation. We identified an internal deletion of the FOCAD gene in all family members tested that altered the reading frame and is predicted to be pathogenic. We conclude that inactivation of the FOCAD gene is likely to cause JPS in this family.
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