AI Article Synopsis
- A 5-year-old girl with rectal bleeding was diagnosed with extensive polyposis after her father had a similar condition (familial adenomatous polyposis, FAP) and underwent colectomy at age 23.
- Both she and her father carried the same mutation (a 5 bp deletion at codon 1309 of the APC gene) that is linked to early onset FAP.
- The case highlights the importance of considering molecular testing for at-risk family members during childhood to monitor for the condition.
Article Abstract
A girl aged 5 years 8 months presented with rectal bleeding; her father had had familial adenomatous polyposis (FAP) and a colectomy at the age of 23. Endoscopy showed extensive polyposis and she had a colectomy. The proband and her father had the common codon 1309 5 bp deletion APC mutation. This mutation predisposes to early onset of FAP, and consideration needs to be given to having molecular testing of at risk members of these families done in childhood.
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Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1051844 | PMC |
| http://dx.doi.org/10.1136/jmg.33.2.157 | DOI Listing |
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