WBR0116

Author	PageAuthor::Mahmoud Sakr (Reviewed by Will Gibson)
Exam Type	ExamType::USMLE Step 1
Main Category	MainCategory::Genetics
Sub Category	SubCategory::Gastrointestinal
Prompt	[[Prompt::A 33-year-old Caucasian female presents with diarrhea and foul-smelling bulky stools for the past 3 weeks. She has tried several over the counter medications with no relief. Yesterday, she noticed an eruption of intensely pruritic papules and vesicles on her elbows, dorsal forearms and back. She recalls that her older brother has suffered from a similar illness for approximately 5 years. Her vital signs and initial labs are unremarkable. Serologic testing revealed elevated levels of IgA tissue transglutaminase antibodies. Which of the following gene mutations most likely predisposed this patient's condition?]]
Answer A	AnswerA::HLA DQ2 gene
Answer A Explanation	AnswerAExp::This patient suffers from celiac disease or gluten-sensitive enteropathy, which is genetically predisposed by HLA DQ2 or HLA DQ8 gene mutations
Answer B	AnswerB::IBD1 gene
Answer B Explanation	AnswerBExp::IBD1 is associated with inflammatory bowel diseases.
Answer C	AnswerC::HLA-DR2
Answer C Explanation	AnswerCExp::HLA-DR2 is associated with inflammatory bowel diseases.
Answer D	AnswerD::APC gene
Answer D Explanation	AnswerDExp::APC gene mutation predisposes to Familial adenomatous polyposis
Answer E	AnswerE::HNPCC gene
Answer E Explanation	AnswerEExp::HNPCC gene mutation is associated with hereditary non-polyposis colorectal cancer.
Right Answer	RightAnswer::A
Explanation	[[Explanation::This patient suffers from celiac disease or gluten-sensitive enteropathy, which is genetically predisposed by HLA DQ2 or HLA DQ8 gene mutations. HNPCC gene mutation is associated with hereditary non-polyposis colorectal cancer. APC gene mutation predisposes to Familial adenomatous polyposis. IBD1 and HLA-DR2 are associated with inflammatory bowel diseases. Educational Objective: References: ]]
Approved	Approved::Yes
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