Primary ovarian insufficiency

Gene: PGRMC1

Comment on mode of inheritance: changed from monoallelic to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males). (XLR)- the gene is encoded on chromosome Xq24

Created: 25 Sep 2017, 12:52 p.m.

I don't know

Comment when marking as ready: Marked as amber as there is some evidence that this could be a cause of POI (please see my review comment)

Created: 30 May 2017, 12:22 p.m.

Not associated with phenotype in OMIM. However, in pubmed: Mansouri et al. (2008) identified a mother and daughter with POI, both of whom carried an X;autosome translocation [t(X;11)(q24;q13)]. Systematic mapping of the Xq breakpoint and performing RNA expression studies revealed reduced expression of PGRMC1. Mutation screening of 67 females with idiopathic POI identified a third patient having a missense mutation (p.H165R). A recent study in Chinese patients with POI identified a novel missense mutation (p. P186S). So, limited evidence to make it a green gene but sufficient to be amber.

Created: 11 May 2017, 9:44 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
premature ovarian insufficiency

Publications

• 18782852
• 25246111