VIPAS39 related arthrogryposis-renal dysfunction-cholestasis syndrome—case report and systematic review

Table 2 A list of reported cases of ARC syndrome with VIPAS39 pathological variants so far

Patient	Reference	Mutation sites	Homozygotes/CH	Amino acid change	Country of origin	Arthrogryposis	Renal dysfunction	Cholestasis	Ichthyosis/hyperkeratosis	Platelet dysfunction/bleeding disorder	Sensorineural deafness
I	[9]	339del; 1035C>G	CH	Phe113Leufs60; Tyr345	Japan	−	+	+	+	−	+
II	[22]	NA	Hom	NA	India	+	+	+	+	−	NA
III	[23]	618_626dup	Hom	Arg206_Leu208dup	India	+	+	+	NA	NA	NA
IV	[24]	63_464delTG; 484C>T	CH	Trp155GlufsX4; Arg162X	United Kingdom	+	+	+	+	+	NA*
V	[24]	808C>T	Hom	Arg270X	Pakistan	+	+	+	+	+	NA*
VI	[25]	484C>T	Hom	Arg162Stop	NA	+	+	+	NA	+	NA
VII	[26]	1130G>C	Hom	Arg377Pro	Iran	+	+	+	NA	NA	+
VIII	[27]	1021T>C	Hom	Cys341Arg	Pakistan	+	+	+	+	+
IX	Our patient 1	762G>A; 1064_1082delinsAGTG	CH	Ala254=; Pro355_Thr361delinsGlnTer	Kosovo	−	+	−	+	+	+
X	Our patient 2	762G>A; 1064_1082delinsAGTG	CH	Ala254=; Pro355_Thr361delinsGlnTer	Kosovo	+	−	−	+	+	−

Patient	Reference	Mutation sites	Homozygotes/CH	Amino acid change	Country of origin	Agenesis of the corpus callosum	Hypothyroidism	Faltering growth	Recurrent infection	Intellectual disability	Survival
I	[9]	339del; 1035C>G	CH	Phe113Leufs60; Tyr345	Japan	NA	NA	+	NA	+	Alive at 24 years
II	[22]	NA	Hom	NA	India	NA	+	+	+	+	NA
III	[23]	618_626dup	Hom	Arg206_Leu208dup	India	NA	NA	+	NA	NA	NA**
IV	[24]	63_464delTG; 484C>T	CH	Trp155GlufsX4; Arg162X	United Kingdom	NA	+	+	+	+	9 months
V	[24]	808C>T	Hom	Arg270X	Pakistan	NA	−	+	+	+	20 months
VI	[25]	484C>T	Hom	Arg162Stop	NA	NA	NA	+	−**	NA	Alive at 3 months
VII	[26]	1130G>C	Hom	Arg377Pro	Iran	NA	+	NA	NA	NA	Alive at 2,5 months
VIII	[27]	1021T>C	Hom	Cys341Arg	Pakistan	+	NA	+	NA	NA	7 months
IX	Our patient 1	762G>A; 1064_1082delinsAGTG	CH	Ala254=; Pro355_Thr361delinsGlnTer	Kosovo	+	NA	+	+	+	10 years and 10 months
X	Our patient 2	762G>A; 1064_1082delinsAGTG	CH	Ala254=; Pro355_Thr361delinsGlnTer	Kosovo	+	−	+	−	+	Alive at 16 years

NA Not available
CH Compound heterozygotes
*The article states that two out of three described patients had sensorineural deafness but does not specify which two patients
**Patient’s age at the time of report was 27 days

ISSN: 1750-1172