Biallelic loss-of-function ZFYVE19 mutations are associated with congenital hepatic fibrosis, sclerosing cholangiopathy and high-GGT cholestasis.
Weisha LuanChen-Zhi HaoJia-Qi LiQing WeiJing-Yu GongYi-Ling QiuYi LuCong-Huan ShenQiang XiaXin-Bao XieMei-Hong ZhangKuerbanjiang AbuduxikuerZhong-Die LiLi WangQing-He XingA S KniselyJian-She WangPublished in: Journal of medical genetics (2020)
Biallelic ZFYVE19 mutations can lead to high-GGT cholestasis and DPM/CHF in vivo. In vitro, they can lead to centriolar and axonemal abnormalities. These observations indicate that mutation in ZFYVE19 results, through as yet undefined mechanisms, in a ciliopathy.