FOCAD Indel in a Family With Juvenile Polyposis Syndrome

Autor:	Suzanne P. MacFarland, Hongbo Xie, Maiah H. Dent, Bridgid Greed, Sharon E. Plon, Sarah R. Scollon, Garrett M. Brodeur, James R. Howe
Rok vydání:	2022
Předmět:	Intestinal Polyposis Neoplastic Syndromes Hereditary Pediatrics Perinatology and Child Health Gastroenterology Humans Child Germ-Line Mutation Gastrointestinal Neoplasms
Zdroj:	Journal of pediatric gastroenterology and nutrition. 75(1)
ISSN:	1536-4801
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62a5e166bb9ba9185caa8429a3cc158a https://pubmed.ncbi.nlm.nih.gov/35622075 Zobrazit plný text záznamu Plný text