Table 1 Clinical features of POI patients with mutations in FMN2
From: Heterozygous FMN2 missense variant found in a family case of premature ovarian insufficiency
Patient No | FMN2 Mutations | Current Age (yr) | Age of Amenorrhea (yr) | Smoking status | No. of pregnancies | Concomitant diseases | ||
|---|---|---|---|---|---|---|---|---|
Sequence Variation | Amino-acid Variation | Mutation Type | ||||||
Index Family | ||||||||
 l2 | c.1949C > T | p.Ser650Leu | SNV | 81 | 37 | None | 4 | Breast Cancer, Hypertension |
 ll2 | c.1949C > T | p.Ser650Leu | SNV | 56 | 40 | None | 2 | Hypertension |
 lll2 | c.1949C > T | p.Ser650Leu | SNV | 35 | 34 | None | 1 | None |
Sporadic POI | ||||||||
 Case 1 | c.1967G > A | p.Arg656His | SNV | 29 | 23 | None | 0 | None |