Primary ovarian insufficiency

Gene: MSH4

This gene is not associated with a phenotype in OMIM or Gene2Phenotype.

PMID:28541421. 1 family affected by POI (NM_002440.3: c.2355+1G>A). Parents are heterozygous for the variant and 2 daughters (3 daughters and 2 sons in total) are homozygous for variant and diagnosed with POI. Variant causes exon skipping.

PMID:10809667. Msh4 knockout mouse model. Mice were viable except for low testicular weight. -/- males were infertile. -/- females, most oocytes were lost from ovaries shortly after birth.

PMID:33437391. Han Chinese patient with non-obstructive azoospermia (NOA) from a consanguineous family. Patient had homozygous variant in MSH4 (c.1552C>T:p.Q518X) and parents are heterozygous carriers.

PMID:33448284. Consanguineous family with 14 children. 2 women have been diagnosed with POI, 3 men with NOA and 1 man with oligozoospermia. All affected individuals are homozygous for variant in MSH4 (S754L).

There is enough evidence to support a gene-disease association. This gene has been given a Green rating.
Sources: Literature

Created: 14 May 2021, 12:05 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Primary ovarian insufficiency; primary ovarian failure, MONDO:0005387; non-obstructive azoospermia

Publications

• 28541421
• 10809667
• 33437391
• 33448284