Table 1.

Main findings in the 9 Chinese patients and our case

Reference	Total cases	Sex, Age onset	ZFYVE19 gene mutations		First clinical features	Clinical evolution	Hystopathologic features	Renal cystic change	↑GGT ↑GPT ↑GOT	Outcome	Ciliary studies
			Nucleotide change	Aminoacid change
Luan et al. (2020)	9	M, birth	c.314C > G	p.S105X	Neonatal jaundice	Resolved Jaundice, 8 months. Hepato-splenomegaly. UGIH	Explanted liver, micronodular cirrhosis, ductular reaction	No	Yes	LT at 5 y 6 m	In ZFYVE19-knockdown hRPE1 cells, a prominent phenotypical abnormality, was an increase in numbers of basal bodies/centrioles. Separation/abnormal arrangement of the centriole pair(s) was also observed. However, cilium assembly was not affected and extra cilia took shape at extra basal bodies/ centrioles In ZFYVE19-deficient fibroblast-like cells derived from patient iPSCs, similar phenotypes involving abnormalities of ciliary and centriolar numbers but not of cilium assembly were demonstrated In both cells: supernumerary centrioles and cilia when ZFYVE19 was depleted
		Sisters F, 5 y	c.226A > G c.314C > G	p.M76V p.S105X		Hepato-splenomegaly. Portal hypertension	DPM	No	Yes	Improved LFTs on UDCA at 15 y worsened on UDCA at 17 y
		F, 14 m			Hepatomegaly	Hepatomegaly		No	Yes	Improved LFTs on UDCA at 10 y 4 m; UDCA stopped at 12 y 4 m
		M, 40 days	c.314C > G c.514C > T	p.S105X p.R172X	Neonatal jaundice, diarrhoea	Pruritus. Hepato-splenomegaly. Portal hypertension	DPM	No	Yes	Improved LFTs on UDCA at 14 y 1 m
		M, 4 m	c.314C > G	p.S105X	Fever, diarrhea	Hepato-splenomegaly. Portal hypertension. UGIH	DPM, cholestasis	No	Yes	LT at 6 y 4 m
		M, 3 m	c.547C > T c.314C > G	p.R183X p.S105X	Neonatal jaundice	Hepato-splenomegaly	Portal widening and fibrosis, ductular reaction	No	Yes	Normalised LFTs on UDCA at 6 y
		Sisters F, 9 y	c.514C > T	p.R172X	Hepato-splenomegaly	Hepato-splenomegaly	DPM	No	Yes	Improved LFTs on UDCA at 11 y
		F, 4 y			UGIH		DPM, fibro-obliterative loss of bile ducts with DPM	No	Yes	LT at 4 y 8 m
		M, 3 m	c.379C > T c.314C > G	p.Q127X p.S105X	Neonatal jaundice Fever, cough	Hepato-splenomegaly. Portal hypertension. UGIH	DPM, fibro-obliterative loss of bile ducts with DPM, cholestasis	No	Yes	LT at 1 y 10 m
Present case	1	F, 59 days	c.667C > T	p.R223X [p.Arg223Ter]	Cholestatic jaundice. Hepato-splenomegaly	Hepato-splenomegaly Anicteric cholestasis	Micronodular cirrhosis, bile ducts proliferation and portal tract abnormalities consonant with DPM or CHF	No	Yes	Mild ↑ LFTs, persistent anicteric cholestasis with preserved protein synthesis, on UDCA and Rifampicin (5y)	Immunofluorescence analysis of primary cilia on cultured skin fibroblasts showed fragmented cilia and centrioles abnormalities

DPM, ductal plate malformation; GGT, serum Gamma glutamyl tranpeptidase; GOT, serum glutamic oxaloacetic transaminase; GPT, serum glutamic pyruvic transaminase; LFT, liver function test; LT, liver transplantation; UDCA, ursodeoxycholic acid; UGIH, recurrent upper gastrointestinal haemorrhage; y, year; m, month; ↑, increased