Two independent families with de novo whole APC gene deletion and intellectual disability: a case report
Abstract Background Familial adenomatous polyposis (FAP) is an autosomal dominant colorectal tumour syndrome characterised by the formation of multiple adenomatous polyps throughout the colon. It is important to understand the extracolonic phenotype that characterizes FAP. Most previous case reports...
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2025-01-01
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| Series: | Hereditary Cancer in Clinical Practice |
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| Online Access: | https://doi.org/10.1186/s13053-024-00297-1 |
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| author | Moriya Iwaizumi Terumi Taniguchi Risa Kojima Harumo Osawa Kyota Tatsuta Mayu Sakata Satoshi Osawa Kiyotaka Kurachi Ken Sugimoto |
| author_facet | Moriya Iwaizumi Terumi Taniguchi Risa Kojima Harumo Osawa Kyota Tatsuta Mayu Sakata Satoshi Osawa Kiyotaka Kurachi Ken Sugimoto |
| author_sort | Moriya Iwaizumi |
| collection | DOAJ |
| description | Abstract Background Familial adenomatous polyposis (FAP) is an autosomal dominant colorectal tumour syndrome characterised by the formation of multiple adenomatous polyps throughout the colon. It is important to understand the extracolonic phenotype that characterizes FAP. Most previous case reports of patients with both FAP and intellectual disability (ID) have described deletions in all or part of chromosome 5q, including the APC locus. However, it remains unclear whether the ID phenotype in patients with FAP is due to APC disruption or another genetic defect in the deleted 5q region. Case presentation Patient of family 1 is a 32-year-old woman presented with > 500 colorectal adenomatous polyps, gastric fundic gland polyposis, several duodenal adenomas, and mild intellectual disability (ID). She had no known family history of the FAP phenotype or ID. By copy number trio analysis, a 15.4 Mb interstitial heterozygous de novo deletion including APC region was observed in 5q21.2. q22.3. The patient in family 2 was a 29-year-old man with approximately 50 colorectal adenomatous polyps, fundic gland polyposis in the stomach, non-ampullary adenomas in the duodenum, and mild ID. He had no family history of the FAP phenotype or ID. Using copy number trio analysis, a de novo 9.8 Mb heterozygous deletion was identified on 5q22.1. q23.1 which includes the APC region. Conclusions Based on previous reports and the present study, we narrowed down the 5p deletion region associated with ID in FAP. Further investigation is required to understand ID due to 5q stromal deletion. |
| format | Article |
| id | doaj-art-93cffd56f7104a759f3ef953f90afa40 |
| institution | Kabale University |
| issn | 1897-4287 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | BMC |
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| series | Hereditary Cancer in Clinical Practice |
| spelling | doaj-art-93cffd56f7104a759f3ef953f90afa402025-01-12T12:41:57ZengBMCHereditary Cancer in Clinical Practice1897-42872025-01-012311610.1186/s13053-024-00297-1Two independent families with de novo whole APC gene deletion and intellectual disability: a case reportMoriya Iwaizumi0Terumi Taniguchi1Risa Kojima2Harumo Osawa3Kyota Tatsuta4Mayu Sakata5Satoshi Osawa6Kiyotaka Kurachi7Ken Sugimoto8Department of Laboratory Medicine, Hamamatsu University School of MedicineDepartment of Laboratory Medicine, Hamamatsu University School of MedicineClinical and Molecular Genetics Center, Hamamatsu University School of MedicineClinical and Molecular Genetics Center, Hamamatsu University School of MedicineDepartment of Surgery, Hamamatsu University School of MedicineDepartment of Surgery, Hamamatsu University School of MedicineDepartment of Endoscopic and Photodynamic Medicine, Hamamatsu University School of MedicineClinical and Molecular Genetics Center, Hamamatsu University School of MedicineFirst Department of Medicine, Hamamatsu University School of MedicineAbstract Background Familial adenomatous polyposis (FAP) is an autosomal dominant colorectal tumour syndrome characterised by the formation of multiple adenomatous polyps throughout the colon. It is important to understand the extracolonic phenotype that characterizes FAP. Most previous case reports of patients with both FAP and intellectual disability (ID) have described deletions in all or part of chromosome 5q, including the APC locus. However, it remains unclear whether the ID phenotype in patients with FAP is due to APC disruption or another genetic defect in the deleted 5q region. Case presentation Patient of family 1 is a 32-year-old woman presented with > 500 colorectal adenomatous polyps, gastric fundic gland polyposis, several duodenal adenomas, and mild intellectual disability (ID). She had no known family history of the FAP phenotype or ID. By copy number trio analysis, a 15.4 Mb interstitial heterozygous de novo deletion including APC region was observed in 5q21.2. q22.3. The patient in family 2 was a 29-year-old man with approximately 50 colorectal adenomatous polyps, fundic gland polyposis in the stomach, non-ampullary adenomas in the duodenum, and mild ID. He had no family history of the FAP phenotype or ID. Using copy number trio analysis, a de novo 9.8 Mb heterozygous deletion was identified on 5q22.1. q23.1 which includes the APC region. Conclusions Based on previous reports and the present study, we narrowed down the 5p deletion region associated with ID in FAP. Further investigation is required to understand ID due to 5q stromal deletion.https://doi.org/10.1186/s13053-024-00297-1Familial adenomatous polyposisIntellectual disabilityWhole APC deletionDe novo mutationAPC geneChromosome 5q deletion |
| spellingShingle | Moriya Iwaizumi Terumi Taniguchi Risa Kojima Harumo Osawa Kyota Tatsuta Mayu Sakata Satoshi Osawa Kiyotaka Kurachi Ken Sugimoto Two independent families with de novo whole APC gene deletion and intellectual disability: a case report Hereditary Cancer in Clinical Practice Familial adenomatous polyposis Intellectual disability Whole APC deletion De novo mutation APC gene Chromosome 5q deletion |
| title | Two independent families with de novo whole APC gene deletion and intellectual disability: a case report |
| title_full | Two independent families with de novo whole APC gene deletion and intellectual disability: a case report |
| title_fullStr | Two independent families with de novo whole APC gene deletion and intellectual disability: a case report |
| title_full_unstemmed | Two independent families with de novo whole APC gene deletion and intellectual disability: a case report |
| title_short | Two independent families with de novo whole APC gene deletion and intellectual disability: a case report |
| title_sort | two independent families with de novo whole apc gene deletion and intellectual disability a case report |
| topic | Familial adenomatous polyposis Intellectual disability Whole APC deletion De novo mutation APC gene Chromosome 5q deletion |
| url | https://doi.org/10.1186/s13053-024-00297-1 |
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