Researchers identified a previously classified “idiopathic” gene that is responsible for neonatal/infantile cholestasis, including in patients with Alagille syndrome (ALGS), and presented their results at the 54th annual European Society for Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN) meeting.
The study credits advances in molecular genetics, particularly the use of next-generation sequencing in testing candidate genes and uncovering the new gene. The authors aimed to assess the etiology of genetic neonatal/infantile cholestasis as well as the utility of single-gene testing and a neonatal cholestasis gene panel.
Genetic analyses were conducted on 148 patients at a single center in South Korea who were suspected of having genetic neonatal/infantile cholestasis. Single gene testing was performed first, and if the results were unclear, a neonatal cholestasis panel of 34 genes was next conducted.
The findings revealed 14 with ALGS and 14 with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD), among other conditions. Among the 69 undergoing the neonatal cholestasis gene panel, 14 were genetically confirmed, including 1 with ALGS.
The authors concluded that the most common diseases in genetic neonatal/infantile cholestasis are ALGS and NICCD and that single-gene testing and the neonatal cholestasis gene panel are important components to achieving a correct diagnosis of this condition.
Han JW, Moon SY, Shin M, et al. The etiology of genetic neonatal/infantile cholestasis and usefulness of the molecular genetic testing. Presented at: European Society for Paediatric Gastroenterology Hepatology and Nutrition (ESPGHAN) 54th Annual Meeting: Copenhagen, Denmark, and virtual; June 22-25, 2022.