Novel PMM2 missense mutation in a Chinese family with non-syndromic premature ovarian insufficiency

This particular gene modification results in changes in activity of phosphomannomutase modification, which could lead to PMM2-CDG-Ia with an uncommon phenotype.

This study sought to identify a disease-related gene in a consanguineous Chinese family in which there were two premature ovarian insufficiency (POI) sisters. Method: We used whole-exome sequencing and Sanger sequencing to identify the disease-causing gene.