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- Title
Genomic insights into familial adenomatous polyposis: unraveling a rare case with whole APC gene deletion and intellectual disability.
- Authors
Tanabe, Hiroki; Ijiri, Masami; Takahashi, Kenji; Sasagawa, Honoka; Kamanaka, Tomomi; Kuroda, Shohei; Sato, Hiroki; Sarashina, Takeo; Mizukami, Yusuke; Makita, Yoshio; Okumura, Toshikatsu
- Abstract
A young patient diagnosed with advanced colon cancer and liver metastasis was found to have familial adenomatous polyposis (FAP) through comprehensive genomic analysis. Whole-genome array comparative genomic hybridization (aCGH) revealed germline deletions at chromosome 5q22.1-22.2 encompassing the entire APC gene. The patient and her son exhibited mild intellectual disability without developmental delay. This case highlights the need for further exploration of the characteristics associated with whole APC deletions. aCGH is a valuable tool for studying FAP and provides a detailed analysis of large deletions.
- Subjects
ADENOMATOUS polyposis coli; INTELLECTUAL disabilities; DELETION mutation; COMPARATIVE genomic hybridization; DEVELOPMENTAL disabilities; FRAGILE X syndrome
- Publication
Human Genome Variation, 2024, Vol 11, Issue 1, p1
- ISSN
2054-345X
- Publication type
Article
- DOI
10.1038/s41439-024-00270-3