Primary ovarian insufficiency

Gene: DACH2

I don't know

Comment when marking as ready: Marked as amber as 2 mutations reported in sporadic patients

Created: 22 May 2017, 9:21 a.m.

Not associated with phenotype in OMIM. Initially identified by fine mapping of the disrupted region in an X;autosome translocation in POI patients (10894934). A subsequent study in the Italian cohort of patients with POI revealed two novel missense mutations (p.R37L and p.F316S) (15459172). However, no additional mutations have been reported since.

Created: 11 May 2017, 10:10 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
premature ovarian insufficiency

Publications

• 15459172