Table IV.
Phenotype data of premature ovarian failure (POF) patients carrying aberrations with potentially clinical significance.
| Case ID | Locus | CN | Phenotype |
||||||
|---|---|---|---|---|---|---|---|---|---|
| Age at study (years) | Age of menarche (years) | Age at menopause (yr) | No. of pregnancies | No. of live births | Smoking status | Concomitant diseases (age of diagnose) | |||
| Case1 | 1q43 | 1 | 71 | 18 | 40a | 4 | 2 | Never smoked | Hypothyroidism (24 yr); primary hypertension (67 yr) |
| Case2 | 2p13.11 | 1 | 53 | 11 | 39 | 3 | 2 | Never smoked | Adiposity (42 yr); hypertension with heart failure (50 yr) |
| Case3 | 2q33.1 | 3 | 41 | 11 | 33 | 5 | 2 | Never smoked | Unspecified arthrosis (35 yr) |
| Case4 | 6q27 | 3 | 39 | 12 | 24 | 2 | 1 (IVF) | Current smoker | Arthritis (24 yr); asthma (29 yr) |
| Case5 | 7p14.3 | 1 | 58 | 15 | 32 | 4 | 2 | Never smoked | Allergic contact dermatitis (45 yr); coxarthrosis and unspecified rheumatism (52 yr); post-menopausal osteoporosis (53 yr); primary hypertension (55 yr) |
| Case6 | 9q22.31 | 1 | 68 | 15 | 38 | 2 | 1 | Never smoked | – |
| Case7 | 10q26.3 | 1 | 56 | 13 | 38 | 6 | 3 | Never smoked | Allergic contact dermatitis (45 yr); hypertension with heart failure (50 yr); unspecified polyarthritis (57 yr); |
| Case8 | 10q26.3 | 1 | 69 | 18 | 30 | 0 | 0 | Never smoked | Primary bilateral gonarthrosis (49 yr); hypertension with heart failure (52 yr); familial hypercholesterolemia (62 yr); Type 2 diabetes (67 yr) |
| Case9 | 12q24.31 | 3 | 51 | 16 | 40 | 1 | 1 | Former smoker | – |
| Case10 | 15q25.2 | 1 | 55 | 13 | 38 | 3 | 2 | Never smoked | – |
| Case11 | 16p13.12 | 3 | 50 | 15 | 39 | 5 | 3 | Current smoker | Adiposity (41 yr) |
| Case12 | 17q12 | 3 | 74 | 15 | 39 | 2 | 2 | Never smoked | Hypertension with heart failure (73 yr) |
| Case13 | 22q13.2 | 1 | 47 | 13 | 37 | 0 | 0 | Current smoker | – |
| Case14 | Xp22.31 | 3 | 52 | 13 | 40 | 1 | 1 | Current smoker | Spondylosis with radiculopathy of unspecified location (33 yr) |
| Case15 | Xp22.31 | 3 | 37 | 17 | 37 | 3 | 2 | Current smoker | – |
| Case16 | Xq12 | 3 | 31 | 13 | 25 | 3 | 3 | Current smoker | – |
| Case17 | Xq22.1-q24 | 1 | 52 | 12 | 40 | 3 | 2 | Never smoked | – |
Subsequent whole-exome sequencing was performed for cases indicated in bold; yr, year.
aAge of 39 years and 6–11 months was rounded to 40 years.