Supplementary Material for: No Mutations in the <b><i>PSMC3IP </i></b>Gene Identified in a Swedish Cohort of Women with Primary Ovarian Insufficiency

Ovarian dysfunction before the age of 40 years, characterized by hypergonadotropic hypogonadism and presenting with either primary or secondary amenorrhea, is called primary ovarian insufficiency (POI). POI has a significant genetic component, but the specific genetic cause is often unknown. A novel candidate gene for POI, <i>PSMC3IP</i>, has recently been identified. The aim of this study was to investigate a group of patients with POI for possible <i>PSMC3IP</i> mutations. Therefore, DNA samples from 50 patients with POI of primarily Swedish origin were used in the study, 27 with secondary amenorrhea (median age of diagnosis 23 years) and 23 with primary amenorrhea. Control material consisting of DNA samples from 95 women without POI was used for investigation of novel sequence variants. All exons and intron/exon boundaries of the <i>PSMC3IP</i> gene were analyzed by PCR and sequencing. As a result, no pathogenic mutation in the <i>PSMC3IP</i> gene was detected in the cohort. A previously unreported variant, NM_016556.3:c.337+33A>G, was detected in heterozygous form in 1 patient with secondary amenorrhea, likely constituting a normal variant. Two reported single nucleotide polymorphisms were detected in the cohort at the expected frequency. In conclusion, <i>PSMC3IP</i> gene mutations are not common causes of POI in this Swedish cohort.