Genetic contribution of ABCC2 to Dubin-Johnson syndrome and inherited cholestatic disorders.
Christophe CorpechotVéronique BarbuOlivier ChazouillèresPierre BrouéMuriel GirardBertrand RoquelaureYves ChrétienCatherine DongOlivier LascolsChantal HoussetIsabelle JéruPublished in: Liver international : official journal of the International Association for the Study of the Liver (2019)
This large series reveals that DJS is a highly homogeneous Mendelian disorder involving a large spectrum of ABCC2 variants. Genetic testing is crucial to establish early DJS diagnosis in patients with atypical presentations, such as neonatal cholestasis. This study also provides no evidence for the contribution of rare, potentially pathogenic ABCC2 variants to other inherited cholestatic disorders.