Table 1 Candidate regions for POF phenotype (region, type of CNV, genomic coordinates hg19, minimal size, candidate gene), phenotypic and hormonal features of the OF patients presenting with a significant CNV variant
Patient | Region | Type of CNV | Genomic coordinates (hg19) | CNV minimal size | Candidate gene | Clinical features besides OF | AMH (ng/ml) | FSH (UI/l) | Age (years) |
|---|---|---|---|---|---|---|---|---|---|
7 | 8p23.2 | dup | 2,308,926–5,935,998 | 3627 kb | CSMD1 | Spaniomenorrhea | 0.9 | 6.9 | 21 |
3 miscarriages | |||||||||
20 | 2q14.2q14.3 | dup | 122,121,531–122,863,325 | 742 kb | CLASP1 | Spaniomenorrhea | 0.4 | 24 | 34 |
1 ectopic pregnancy | |||||||||
Breast cancer in an aunt | |||||||||
21 | 2p23.3 | dup | 26,557,453–27,116,447 | 559 kb | CENP A | Bronchiectasis | 0.9 | 9.7 | 31 |
21 | 21q22.3 | del | 43,762,549–43,985,429 | 223 kb | RSPH1 | Ciliar anomalies of the ducts | |||
Failure of 3 ART cycles | |||||||||
25 | 13q34 | dup | 114,931,625–115,043,128 | 112 kb | CDC16 | Ovarian cyst | <0.4 | 8.6 | 34 |
Failure of 6 ART cycles | |||||||||
Hypothyroidy | |||||||||
29 | 9p13.3 | dup | 34,206,594–34,391,999 | 185 kb | KIF24 | Secondary amenorrhea | <0.4 | 13 | 30 |
31 | 1p13.31 | del | 109,697,100–109,745,781 | 49 kb | KIAA1324 | Secondary amenorrhea | 0.14 | 133 | 34 |
43 | 10q26.31 | dup | 135,254,039–135,377,532 | 123 kb | SYCE1 | Secondary amenorrhea | <0.4 | 81 | 28 |
47 | 15q21.1 | dup | 48,057,293–48,145,309 | 88 kb | SEMA6D | Vaginal and uterine septum | <0.4 | na | 35 |