Identification of compound heterozygous variants in MSH4 as a novel genetic cause of diminished ovarian reserve

Table 2 An overview of MSH4 disease-causing variants from Clinvar database and literature

Nucleotide change	Protein change	Type of mutation	Sex	Associated Phenotype	Clinvar ID	Reference
c.G244A	p.Gly82Ser	missense	male	NOA	—	Li P et al., 2022 [18].
c.670delT	p.Leu224Cysfs*3	frameshift	male	NOA	—	Li P et al., 2022 [18].
c.805_812del	p.Val269Glnfs*15	frameshift	male	NOA	1,693,502	Li P et al., 2022 [18].
c.1025 C > T	p.Thr342Ile	missense	female	POI	1,256,043	—
c.1063 A > G	p.Ile355Val	missense	female	POI	1,255,997	—
c.1453 C > T	p.Gln485Ter	nonsense	male	NOA	992,887	Wyrwoll MJ et al., 2021 [19].
c.1552 C > T	p.Gln518Ter	nonsense	male	NOA	1,693,500	Tang D et al., 2020 [38].
c.1686del	p.Lys562_Val563insTer	nonsense	male	NOA	992,888	Wyrwoll MJ et al., 2021 [19].
c.1855 A > G	p.Met619Val	missense	female	POI	1,256,012	—
c.1913 C > T	p.Pro638Leu	missense	male	NOA	—	Krausz et al., 2020 [21]
c.1950G > A	p.Trp650Ter	nonsense	male	NOA	1,693,503	Li P et al., 2022 [18].
c.2179del	p.Asp727Metfs*11	frameshift	male	NOA	1,693,504	Li P et al., 2022 [18].
c.2198 C > A	p.Ser733Ter	nonsense	male/female	NOA,POI	992,889	Wyrwoll MJ et al., 2021 [19].
c.2222_2225del	p.Lys741Argfs*2	frameshift	male/female	NOA, POI	1,256,044	Li P et al., 2022 [18].
c.2261 C > T	p.Ser754Leu	missense	male/female	NOA,POI	869,115	Krausz et al., 2020 [21]; Akbari A et al., 2021 [20].
c.2355 + 1G > A	——	splice site	female	POI	1,693,499	Carlosama C et al., 2017 [17].
c.2374 A > G	p.Thr792Ala	missense	female	POI	1,256,001	—
c.2728 C > T	p.Arg910Ter	nonsense	female	POI	1,256,045	—

The table summarized previously reported MSH4 disease-causing variants from ClinVar database and literature, including nucleotide and protein changes, mutation types, sex of the patients, associated phenotypes, ClinVar IDs, and references

ISSN: 1477-7827