High-resolution genetic analysis of whole APC gene deletions: a report of two cases and patient characteristics
Abstract Familial adenomatous polyposis (FAP) is an autosomal dominant syndrome caused by germline variants in the APC gene, leading to the development of numerous colorectal polyps and significantly increases the risk of colorectal cancer. A diagnosis is typically made using colonoscopy, and geneti...
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| Language: | English |
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Nature Publishing Group
2024-12-01
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| Series: | Human Genome Variation |
| Online Access: | https://doi.org/10.1038/s41439-024-00301-z |
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| author | Hiroki Tanabe Yasuyuki Koshizuka Kazuyuki Tanaka Kenji Takahashi Masami Ijiri Keitaro Takahashi Katsuyoshi Ando Nobuhiro Ueno Shin Kashima Takeo Sarashina Kentaro Moriichi Kenrokuro Mitsube Yusuke Mizukami Mikihiro Fujiya Yoshio Makita |
| author_facet | Hiroki Tanabe Yasuyuki Koshizuka Kazuyuki Tanaka Kenji Takahashi Masami Ijiri Keitaro Takahashi Katsuyoshi Ando Nobuhiro Ueno Shin Kashima Takeo Sarashina Kentaro Moriichi Kenrokuro Mitsube Yusuke Mizukami Mikihiro Fujiya Yoshio Makita |
| author_sort | Hiroki Tanabe |
| collection | DOAJ |
| description | Abstract Familial adenomatous polyposis (FAP) is an autosomal dominant syndrome caused by germline variants in the APC gene, leading to the development of numerous colorectal polyps and significantly increases the risk of colorectal cancer. A diagnosis is typically made using colonoscopy, and genetic testing can assist in patient surveillance and carrier identification. Recent advances include the use of whole-genome array comparative genomic hybridization (a-CGH), which provides better resolution of genetic imbalances. We aimed to explore the specific features of FAP patients with whole APC gene deletions using high-resolution a-CGH and to compare patient characteristics. Two polyposis patients with whole APC deletions were identified, and the lost genetic sizes ranged from 0.3–1.1 Mb. Nervous abnormalities were a characteristic symptom in a patient with a 1.1 Mb loss. A patient with an approximately 0.3 Mb loss, which included the entire APC gene, presented a polyposis phenotype without intellectual disability. The comparison of genetic losses, with or without intellectual disability, revealed 7 genetic changes. Consequently, EPB41L4A is a candidate gene associated with the neurogenic phenotype. |
| format | Article |
| id | doaj-art-880dd0b1dbea4dbaaeb2ff166d71331e |
| institution | Kabale University |
| issn | 2054-345X |
| language | English |
| publishDate | 2024-12-01 |
| publisher | Nature Publishing Group |
| record_format | Article |
| series | Human Genome Variation |
| spelling | doaj-art-880dd0b1dbea4dbaaeb2ff166d71331e2025-01-19T12:15:34ZengNature Publishing GroupHuman Genome Variation2054-345X2024-12-011111510.1038/s41439-024-00301-zHigh-resolution genetic analysis of whole APC gene deletions: a report of two cases and patient characteristicsHiroki Tanabe0Yasuyuki Koshizuka1Kazuyuki Tanaka2Kenji Takahashi3Masami Ijiri4Keitaro Takahashi5Katsuyoshi Ando6Nobuhiro Ueno7Shin Kashima8Takeo Sarashina9Kentaro Moriichi10Kenrokuro Mitsube11Yusuke Mizukami12Mikihiro Fujiya13Yoshio Makita14Oncology Center, Asahikawa Medical University HospitalDepartment of Surgery, Asahikawa-Kosei general HospitalDepartment of Gastroenterology, Asahikawa-Kosei General HospitalGenetic Oncology Department, Asahikawa Medical University HospitalDepartment of Gastroenterology, Japanese Red Cross Asahikawa HospitalDivision of Gastroenterology, Department of Internal Medicine, Asahikawa Medical UniversityGenetic Oncology Department, Asahikawa Medical University HospitalDivision of Gastroenterology, Department of Internal Medicine, Asahikawa Medical UniversityDivision of Gastroenterology, Department of Internal Medicine, Asahikawa Medical UniversityOncology Center, Asahikawa Medical University HospitalDivision of Gastroenterology, Department of Internal Medicine, Asahikawa Medical UniversityDepartment of Obstetrics and Gynecology, Asahikawa-Kosei General HospitalDepartment of Genetic Counseling, Asahikawa Medical University HospitalDivision of Gastroenterology, Department of Internal Medicine, Asahikawa Medical UniversityDepartment of Genetic Counseling, Asahikawa Medical University HospitalAbstract Familial adenomatous polyposis (FAP) is an autosomal dominant syndrome caused by germline variants in the APC gene, leading to the development of numerous colorectal polyps and significantly increases the risk of colorectal cancer. A diagnosis is typically made using colonoscopy, and genetic testing can assist in patient surveillance and carrier identification. Recent advances include the use of whole-genome array comparative genomic hybridization (a-CGH), which provides better resolution of genetic imbalances. We aimed to explore the specific features of FAP patients with whole APC gene deletions using high-resolution a-CGH and to compare patient characteristics. Two polyposis patients with whole APC deletions were identified, and the lost genetic sizes ranged from 0.3–1.1 Mb. Nervous abnormalities were a characteristic symptom in a patient with a 1.1 Mb loss. A patient with an approximately 0.3 Mb loss, which included the entire APC gene, presented a polyposis phenotype without intellectual disability. The comparison of genetic losses, with or without intellectual disability, revealed 7 genetic changes. Consequently, EPB41L4A is a candidate gene associated with the neurogenic phenotype.https://doi.org/10.1038/s41439-024-00301-z |
| spellingShingle | Hiroki Tanabe Yasuyuki Koshizuka Kazuyuki Tanaka Kenji Takahashi Masami Ijiri Keitaro Takahashi Katsuyoshi Ando Nobuhiro Ueno Shin Kashima Takeo Sarashina Kentaro Moriichi Kenrokuro Mitsube Yusuke Mizukami Mikihiro Fujiya Yoshio Makita High-resolution genetic analysis of whole APC gene deletions: a report of two cases and patient characteristics Human Genome Variation |
| title | High-resolution genetic analysis of whole APC gene deletions: a report of two cases and patient characteristics |
| title_full | High-resolution genetic analysis of whole APC gene deletions: a report of two cases and patient characteristics |
| title_fullStr | High-resolution genetic analysis of whole APC gene deletions: a report of two cases and patient characteristics |
| title_full_unstemmed | High-resolution genetic analysis of whole APC gene deletions: a report of two cases and patient characteristics |
| title_short | High-resolution genetic analysis of whole APC gene deletions: a report of two cases and patient characteristics |
| title_sort | high resolution genetic analysis of whole apc gene deletions a report of two cases and patient characteristics |
| url | https://doi.org/10.1038/s41439-024-00301-z |
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