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

Hasan M Isa; Layla I Salman Jr; Zainab A Almaa Jr; Mariam Y Busehail; Zahra A Alherz

doi:10.7759/cureus.32233

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

Cureus. 2022 Dec 5;14(12):e32233. doi: 10.7759/cureus.32233. eCollection 2022 Dec.

Authors

Hasan M Isa¹, Layla I Salman Jr¹, Zainab A Almaa Jr¹, Mariam Y Busehail¹, Zahra A Alherz²

Affiliations

¹ Pediatric Department, Salmaniya Medical Complex, Manama, BHR.
² Pediatric Department, Arabian Gulf University, Manama, BHR.

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.

Keywords: 17q12 deletion syndrome; bahrain; elevated liver enzymes; hnf1b gene; solitary kidney.

Publication types

Case Reports