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| Novel mutation of the TJP2 gene in a Chinese child with progressive cholestatic liver disease coexistent with hearing impairment |
| Jing Zhang ∗, Shu Guo , Tian-Lu Mei , Jin Zhou , De-Xiu Guan , Guo-Li Wang |
Department of Gastroenterology, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing 100045, China
∗ Corresponding author.
E-mail address: zhj666681@163.com (J. Zhang). |
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Abstract Diagnosis and management of infantile cholestatic liver disease with unknown etiology remain challenging. With recent rapid development of genetic technology, several gene mutations have been found to be the cause of this disease [1]. Progressive familial intra- hepatic cholestasis (PFIC) is a group of rare diseases that mainly occur in neonates and infants. Some children might progress to end-stage liver disease that requires liver transplantation. Six types of PFICs have been identified. Previous reports have shown that mutations of ATP8B1 [2], ABCB11 [3], ABCB4 [4], TJP2 [5], NR1H4 [6], and MYO5B [7] are associated with PFIC 1–6. These genes partici- pate in different processes of bile transport.
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2021, Vol. 20 
