期刊
ANNALS OF HUMAN GENETICS
卷 82, 期 1, 页码 48-51出版社
WILEY
DOI: 10.1111/ahg.12221
关键词
17q12 chromosomal duplication; choledochal cyst; hepaticojejunoanastomosis; HNF1B overdosage; neonatal jaundice
资金
- Ministry of Health, Czech Republic
- Motol University Hospital, Prague, Czech Republic [00064203]
- Norway Grants [NF-CZ11-PDP-3-003-2014]
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 x12 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.
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