We identified rs117026326 on GTF2I with GWAS significance (P = 1.10 × 10<sup>-15</sup>) and rs13079920 on RBMS3 with suggestive significance (P = 2.90 × 10<sup>-5</sup>) associating with PSS in women.
The association of RBMS3 was further evidenced by imputation in which rs13072846 (P = 4.89 × 10<sup>-5</sup>) was identified and confirmed as female PSS associating SNP within the same LD with rs13079920.
We identified rs117026326 on GTF2I with GWAS significance (P = 1.10 × 10<sup>-15</sup>) and rs13079920 on RBMS3 with suggestive significance (P = 2.90 × 10<sup>-5</sup>) associating with PSS in women.
Using whole-genome homozygozity mapping and whole-exome sequencing, we identified a novel homozygous missense mutation (c.229C>T, R77W) within the CHST8 gene, in a large consanguineous family with non-inflammatory PSS type A. CHST8 encodes a Golgi transmembrane N-acetylgalactosamine-4-O-sulfotransferase (GalNAc4-ST1), which we show by immunofluorescence staining to be expressed throughout normal epidermis.