LACC1 variant gene defects in familial form of juvenile arthritisJuly 2, 2018
Ilker Karacan et al reports study data confirming Laccase (multicopper oxidoreductase) domain-containing 1 (LACC1) variants can be responsible for the recessive form of juvenile arthritis. Multipoint linkage analysis using high-density single-nucleotide polymorphism (SNP) genotyping microarrays of 17 patients from 7 families verfied that verified that LACC1 gene defects underlie the familial form of juvenile arthritis. The finding that affected siblings in one family do not share genotypes also indicates genetic heterogeneity in familial juvenile arthritis.2 patients in the family, which was the only consanguineous family without a possible causative LACC1 variant, were also subjected to SNP genotyping to investigate whether they shared genotypes in the LACC1 region. SNP genotypes in the LACC1 region were different, excluding shared compound heterozygosity and indicating that LACC1 was not the causative gene in this family.