Choledochal Cyst with 17q12 Chromosomal Duplication

• Published in: Annals of human genetics 2018-01, Vol.82 (1), p.48-51
• Main Authors: Kotalova, Radana, Dusatkova, Petra, Drabova, Jana, Elblova, Lenka, Dedic, Tomas, Cinek, Ondrej, Lebl, Jan, Pruhova, Stepanka
• Format: Article
• Language: English
• Subjects: 17q12 chromosomal duplication; Biliary atresia; Children; choledochal cyst; Cholestasis; Cysts; Fibrosis; hepaticojejunoanastomosis, HNF1B overdosage; Jaundice; Kidneys; Liver; neonatal jaundice; Spleen; Surgery
• ISSN: 0003-4800; 1469-1809
• DOI: 10.1111/ahg.12221

Summary The 17q12 chromosomal region carries the HNF1B gene, mutations of which cause various conditions. When searching for HNF1B/17q12 rearrangements among children with biliary atresia and/or choledochal cysts, we identified a male proband carrying a 17q12 duplication spanning 1698 kb that included 24 genes from TBC1D3C to HNF1B. The boy presented with cholestatic jaundice at the age of 2 weeks due to a choledochal cyst sized 15 ×12 mm (type Ia according to the Todani classification). He underwent a shunt surgery consisting of a hepaticojejunostomy using Roux‐en‐Y loop at the age of 2 months, which led to a permanent relief of cholestasis. Perioperative liver histology revealed significant hepatic fibrosis and bile ductular proliferation. At 17 years, he has a mildly enlarged liver with decreased elasticity, an upper‐normal–sized spleen, normal biochemistry values, and no renal or hepatic cysts. We report the first hepatobiliary phenotype in a patient with an HNF1B overdosage.