17q12 Microdeletion Syndrome as a Rare Cause of Elevated Liver Enzymes: Case Report and Literature Review

Abstract

17q12 deletion syndrome is a rare autosomal dominant inherited condition. It results from de novo mutation and can occur without a family history. Hepatocyte nuclear factor-1 beta (HNF1B) and LIM homeobox 1 (LXH1) genes are the most common genes to be deleted in this syndrome. It has unique clinical characteristics involving multiple systems in the body. The most common presentations are usually renal involvement and maturity-onset diabetes of the young type 5 (MODY5). Genetic study is the golden tool to diagnose patients with this syndrome. Our case presents the unique clinical features of 17q12 deletion syndrome along with a literature review.

Complex neuropsychiatric presentation of 17q12 duplication syndrome: A case report

“…A few studies have linked 17q12 duplication to obesity, supporting obesity as a potential characteristic of this condition and may provide further insight into this rare syndrome. 10 , 11 …”

Hypersensitivity to Psychotropic Medications in a Patient With 17q12 Microdeletion Syndrome

“…Hence, even if individuals with renal cysts are initially asymptomatic, longitudinal nephrology follow-up is recommended. Moreover, independent of drug initiation, these patients have an increased risk for liver enzyme 1,12 and lipid profile abnormalities, 13 pancreatic exocrine insufficiency and structural anomalies, 1 and ophthalmic complications, all of which may warrant specialty physician follow-up.…”