Primary Ovarian Insufficiency_Premature Ovarian Failure

Gene: ESR2

I don't know

A homozygous indel (Asn181del) was identified in a syndromic case with 46,XY DSD, and 2 heterozygous missense variants were identified in 2 non-syndromic cases with 46,XY DSD. Asn181del and Leu426Arg were found to have significantly increased transcriptional activation in in vitro luciferase assays. Esrb null male mice showed no overt abnormalities and reproduced normally. Older mutant males displayed signs of prostate and bladder hyperplasia.
A further individual reported with 46,XX karyotype and ovarian dysgenesis (PMID: 30113650)

Created: 15 Jul 2020, 7:33 a.m. | Last Modified: 15 Jul 2020, 7:33 a.m.

Panel Version: 0.3342

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
46,XY disorder of sex development; Ovarian dysgenesis 8, MIM# 618187

Publications

• 29261182
• 9861029
• 30113650

I don't know

A single female case with complete ovarian failure has been reported with a heterozygous missense variant, shown to cause loss of function in in vitro luciferase assays. Esrb null female mice have reduced fertility as a result of reduced ovarian efficiency.

Created: 26 Jun 2020, 5:23 a.m. | Last Modified: 26 Jun 2020, 5:23 a.m.

Panel Version: 0.15

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Ovarian dysgenesis 8 MIM#618187

Publications

• 30113650
• 9861029