Arthrogryposis, Renal Dysfunction, And Cholestasis 2

A number sign (#) is used with this entry because arthrogryposis, renal dysfunction, and cholestasis-2 (ARCS2) is caused by homozygous or compound heterozygous mutation in the VIPAR gene (613401) on chromosome 14q24.3.

For a general phenotypic description and a discussion of genetic heterogeneity of ARCS, see ARCS1 (208085).

Mapping

In 3 probands with arthrogryposis, renal dysfunction, and cholestasis-2 (ARCS2) who did not have mutations in the known ARCS1 gene, VPS33B (608552), Cullinane et al. (2010) performed a genomewide linkage screen and identified homozygosity at the VIPAR locus on chromosome 14q24.3-q31.

Molecular Genetics

In 3 probands with arthrogryposis, renal dysfunction, and cholestasis (ARCS2) mapping to the VIPAR locus on chromosome 14q24.3 and in 4 additional probands who did not have mutations in the known ARCS1 gene, VPS33B (608552), Cullinane et al. (2010) identified homozygosity or compound heterozygosity for mutations in the VIPAR gene (see, e.g., 613401.0001-613401.0005). The authors detected no differences in clinical symptoms, signs, or disease course between ARCS patients with mutations in VIPAR compared to patients with mutations in VPS33B.