Liver fibrosis detected by ARFI measurement was associated with variants in PKHD1, TMEM67 and TULP3, whereas variants in BBS1, BBS7, BBS10, BBS12, HNF1B, NPHP1, NPHP4 and WDR19 showed normal liver stiffness (Fig. 4). The gene discussed is PKHD1; the disease is Hepatic fibrosis.