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. 2024 Mar 29;11(1):13.
doi: 10.1038/s41439-024-00270-3.

Genomic insights into familial adenomatous polyposis: unraveling a rare case with whole APC gene deletion and intellectual disability

Hiroki Tanabe  1   2   3 , Masami Ijiri  4 , Kenji Takahashi  5   6 , Honoka Sasagawa  7 , Tomomi Kamanaka  8 , Shohei Kuroda  4 , Hiroki Sato  6 , Takeo Sarashina  8 , Yusuke Mizukami  5   6 , Yoshio Makita  7 , Toshikatsu Okumura  6
Affiliations

Genomic insights into familial adenomatous polyposis: unraveling a rare case with whole APC gene deletion and intellectual disability

Hiroki Tanabe et al. Hum Genome Var. .

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.

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Conflict of interest statement

The authors declare no competing interests.

Figures

Fig. 1
Fig. 1. Pedigree of the patients.
The arrow indicates the patients who underwent genetic counseling. A closed circle indicates an individual with colorectal cancer. Colorectal polyposis was observed in the proband (III-1) but not in her ancestors.
Fig. 2
Fig. 2. Comparative genomic hybridization analysis of chromosome 5.
A heterozygous 5q22 deletion was detected. The minimal and maximal deletion positions in GRCh37 (start_stop) were 111143360_112213143 and 111118900_112239978, respectively.
See this image and copyright information in PMC

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