The Turkish Journal of Pediatrics 2023 , Vol 65 , Num 6
A novel homozygous mutation in the USP53 gene as the cause of benign recurrent intrahepatic cholestasis in children: a case report
Burcu Berberoğlu Ateş 1 ,Ahmet Cevdet Ceylan 2 ,Gülin Hızal 1 ,Fatih Duran 1 ,Hayriye Tatlı Doğan 3 ,Şamil Hızlı 1
1 Department of Pediatric Gastroenterology, Hepatology and Nutrition, Bilkent City Hospital, Ankara, Türkiye
2 Department of Medical Genetics, Bilkent City Hospital, Ankara, Türkiye
3 Department of Pediatric Pathology, Bilkent City Hospital, Ankara, Türkiye
DOI : 10.24953/turkjped.2023.367 Background. Benign recurrent intrahepatic cholestasis (BRIC) is a rare cause of cholestasis with recurrent episodes of jaundice and pruritus without extrahepatic bile duct obstruction. A mutation in the USP53 gene is known to cause BRIC-like cholestasis with normal serum gamma-glutamyltransferase (GGT) levels.

Case. We report a 16-year-old boy with recurrent episodes of cholestasis since 6 months of age with normal serum GGT levels. The liver biopsy showed ballooning degeneration of hepatocytes which is typical for BRIC, and intrahepatic and canalicular cholestasis with bilirubinostasis. We performed whole exome sequencing (WES) and identified a novel homozygous variant (NM_001371399.1:c.1558C>T) of the USP53 gene at exon 14 as the cause of BRIC.

Conclusion. This is the first case of USP53 disease from Türkiye with a novel mutation in the USP53 gene. This novel identification of the mutation of c.1558C>T at exon 14 can provide elucidative data for those who work in the field of intrahepatic cholestasis. Our case suggests that USP53 disease must be kept in mind in patients with recurrent intrahepatic cholestasis with normal serum GGT levels. Keywords : cholestasis, children, USP53 gene, benign recurrent intrahepatic cholestasis (BRIC)

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