FOCAD Indel in a Family With Juvenile Polyposis Syndrome

Suzanne P. MacFarland; Hongbo Xie; Maiah H. Dent; Bridgid Greed; Sharon E. Plon; Sarah R. Scollon; Garrett M. Brodeur; James R. Howe

doi:10.1097/MPG.0000000000003470

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FOCAD Indel in a Family With Juvenile Polyposis Syndrome

Journal article

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Peer reviewed

FOCAD Indel in a Family With Juvenile Polyposis Syndrome

Suzanne P. MacFarland, Hongbo Xie, Maiah H. Dent, Bridgid Greed, Sharon E. Plon, Sarah R. Scollon, Garrett M. Brodeur and James R. Howe

Journal of pediatric gastroenterology and nutrition, Vol.75(1), pp.56-58

07/01/2022

DOI: 10.1097/MPG.0000000000003470

PMID: 35622075

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Abstract

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.

Pediatrics

Gastroenterology & Hepatology

Life Sciences & Biomedicine

Nutrition & Dietetics

Science & Technology

Details

Title: Subtitle: FOCAD Indel in a Family With Juvenile Polyposis Syndrome
Creators: Suzanne P. MacFarland - Childrens Hosp Philadelphia, Dept Pediat, Div Oncol, 3501 Civ Ctr Blvd CTRB Rm 3054, Philadelphia, PA 19104 USA
Hongbo Xie - Childrens Hosp Philadelphia, Div Bioinformat, Philadelphia, PA 19104 USA
Maiah H. Dent - Childrens Hosp Philadelphia, Dept Pediat, Div Oncol, 3501 Civ Ctr Blvd CTRB Rm 3054, Philadelphia, PA 19104 USA
Bridgid Greed - Childrens Hosp Philadelphia, Dept Pediat, Div Oncol, 3501 Civ Ctr Blvd CTRB Rm 3054, Philadelphia, PA 19104 USA
Sharon E. Plon - Baylor College of Medicine
Sarah R. Scollon - Baylor College of Medicine
Garrett M. Brodeur - Childrens Hosp Philadelphia, Dept Pediat, Div Oncol, 3501 Civ Ctr Blvd CTRB Rm 3054, Philadelphia, PA 19104 USA
James R. Howe - University of Iowa
Resource Type: Journal article
Publication Details: Journal of pediatric gastroenterology and nutrition, Vol.75(1), pp.56-58
Publisher: Lippincott Williams & Wilkins
DOI: 10.1097/MPG.0000000000003470
PMID: 35622075
ISSN: 0277-2116
eISSN: 1536-4801
Number of pages: 3
Grant note: Audrey Evans Endowed Chair Alex's Lemonade Stand Foundation St. Baldrick's Foundation
Language: English
Date published: 07/01/2022
Academic Unit: Surgery
Record Identifier: 9984321861202771

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