Nonfamilial Juvenile Polyposis Syndrome with Exon 5 Novel Mutation in SMAD 4 Gene
Juvenile polyposis syndrome (JPS) is a rare autosomal dominant hereditary disorder, characterized by multiple juvenile polyps in the gastrointestinal tract and an increased risk of colorectal cancer. JPS is most frequently caused by mutations in the SMAD4 or BMPR1A genes. Herein, we report a child w...
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| Format: | Article |
| Language: | English |
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Wiley
2017-01-01
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| Series: | Case Reports in Pediatrics |
| Online Access: | http://dx.doi.org/10.1155/2017/5321860 |
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| _version_ | 1832561061352439808 |
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| author | Amna Ahmed Badr Alsaleem |
| author_facet | Amna Ahmed Badr Alsaleem |
| author_sort | Amna Ahmed |
| collection | DOAJ |
| description | Juvenile polyposis syndrome (JPS) is a rare autosomal dominant hereditary disorder, characterized by multiple juvenile polyps in the gastrointestinal tract and an increased risk of colorectal cancer. JPS is most frequently caused by mutations in the SMAD4 or BMPR1A genes. Herein, we report a child with juvenile polyposis syndrome (JPS) with a novel mutation in the SMAD4 gene. An 8-year-old boy presented with recurrent rectal bleeding and was found to have multiple polyps in the entire colon. The histology of the resected polyps was consistent with juvenile polyps. Subsequent genetic screening revealed a novel mutation in SMAD4, exon 5 (p.Ser144Stop). To the best of our knowledge, this mutation has not been reported before. Offering genotypic diagnosis for patients with JPS is an important step for strategic plan of management. |
| format | Article |
| id | doaj-art-698131ee4d564aaea4d2c004720ce84e |
| institution | Kabale University |
| issn | 2090-6803 2090-6811 |
| language | English |
| publishDate | 2017-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Pediatrics |
| spelling | doaj-art-698131ee4d564aaea4d2c004720ce84e2025-02-03T01:26:03ZengWileyCase Reports in Pediatrics2090-68032090-68112017-01-01201710.1155/2017/53218605321860Nonfamilial Juvenile Polyposis Syndrome with Exon 5 Novel Mutation in SMAD 4 GeneAmna Ahmed0Badr Alsaleem1Pediatric Gastroenterology and Hepatology Division, Children’s Hospital, King Fahad Medical City, Riyadh, Saudi ArabiaPediatric Gastroenterology and Hepatology Division, Children’s Hospital, King Fahad Medical City, Riyadh, Saudi ArabiaJuvenile polyposis syndrome (JPS) is a rare autosomal dominant hereditary disorder, characterized by multiple juvenile polyps in the gastrointestinal tract and an increased risk of colorectal cancer. JPS is most frequently caused by mutations in the SMAD4 or BMPR1A genes. Herein, we report a child with juvenile polyposis syndrome (JPS) with a novel mutation in the SMAD4 gene. An 8-year-old boy presented with recurrent rectal bleeding and was found to have multiple polyps in the entire colon. The histology of the resected polyps was consistent with juvenile polyps. Subsequent genetic screening revealed a novel mutation in SMAD4, exon 5 (p.Ser144Stop). To the best of our knowledge, this mutation has not been reported before. Offering genotypic diagnosis for patients with JPS is an important step for strategic plan of management.http://dx.doi.org/10.1155/2017/5321860 |
| spellingShingle | Amna Ahmed Badr Alsaleem Nonfamilial Juvenile Polyposis Syndrome with Exon 5 Novel Mutation in SMAD 4 Gene Case Reports in Pediatrics |
| title | Nonfamilial Juvenile Polyposis Syndrome with Exon 5 Novel Mutation in SMAD 4 Gene |
| title_full | Nonfamilial Juvenile Polyposis Syndrome with Exon 5 Novel Mutation in SMAD 4 Gene |
| title_fullStr | Nonfamilial Juvenile Polyposis Syndrome with Exon 5 Novel Mutation in SMAD 4 Gene |
| title_full_unstemmed | Nonfamilial Juvenile Polyposis Syndrome with Exon 5 Novel Mutation in SMAD 4 Gene |
| title_short | Nonfamilial Juvenile Polyposis Syndrome with Exon 5 Novel Mutation in SMAD 4 Gene |
| title_sort | nonfamilial juvenile polyposis syndrome with exon 5 novel mutation in smad 4 gene |
| url | http://dx.doi.org/10.1155/2017/5321860 |
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