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Nonfamilial Juvenile Polyposis Syndrome with Exon 5 Novel Mutation in SMAD 4 Gene
Joint Authors
Ahmed, Amna Basheer M.
Alsaleem, Badr M. Rasheed
Source
Issue
Vol. 2017, Issue 2017 (31 Dec. 2017), pp.1-3, 3 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2017-03-27
Country of Publication
Egypt
No. of Pages
3
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Ahmed, Amna Basheer M.& Alsaleem, Badr M. Rasheed. 2017. Nonfamilial Juvenile Polyposis Syndrome with Exon 5 Novel Mutation in SMAD 4 Gene. Case Reports in Pediatrics،Vol. 2017, no. 2017, pp.1-3.
https://search.emarefa.net/detail/BIM-1149364
Modern Language Association (MLA)
Ahmed, Amna Basheer M.& Alsaleem, Badr M. Rasheed. Nonfamilial Juvenile Polyposis Syndrome with Exon 5 Novel Mutation in SMAD 4 Gene. Case Reports in Pediatrics No. 2017 (2017), pp.1-3.
https://search.emarefa.net/detail/BIM-1149364
American Medical Association (AMA)
Ahmed, Amna Basheer M.& Alsaleem, Badr M. Rasheed. Nonfamilial Juvenile Polyposis Syndrome with Exon 5 Novel Mutation in SMAD 4 Gene. Case Reports in Pediatrics. 2017. Vol. 2017, no. 2017, pp.1-3.
https://search.emarefa.net/detail/BIM-1149364
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1149364