Table 1 Clinical characteristics of individuals with SEMA3F and PLXNA3 variants.
Family/individual number | Gene/variant | Age at diagnosis | Sex | Obesity | Olfaction | Reproductive phenotype |
|---|---|---|---|---|---|---|
A I-2 | SEMA3F p.Pro452Thr | 28 | F | No | Anosmic | No delayed puberty or infertility reported |
A II-1 | SEMA3F p.Pro452Thr | 20 | F | No | Anosmic | Absent puberty, primary amenorrhea |
A II-2 | SEMA3F p.Pro452Thr | 12 | M | Obese | Anosmic | Absent puberty, cryptorchidism |
B II-1 | SEMA3F p.Pro452Thr | 10.5 | M | Overweight | Normosmic | Cryptorchidism |
C II-1 | SEMA3F p.Arg699Trp | 16 | F | No | Normosmic | Absent puberty, primary amenorrhea |
D II-2 | SEMA3F p.Thr29Met | 17 | M | Obese | Hyposmic | Absent puberty, cryptorchidism |
E II-1 | SEMA3F p.Pro722Leu | 14 | M | Obese | Normosmic | Absent puberty |
F II-1 | SEMA3F p.Ala652Ser | 35 | M | No | Hyposmic | Absent puberty, micropenis, infertility |
G II-2 | SEMA3F p.Thr724Met PLXNA3 p.Ser646Pro | 20 | F | No | Normosmic | Primary amenorrhea, delayed menarche at age 16 |
G II-6 | SEMA3F p.Thr724Met PLXNA3 p.Ser646Pro | 14 | F | No | Normosmic | Absent puberty |
H II-1 | PLXNA3 p.Arg108Cys | 19 | M | No | Normosmic | Absent puberty |
H II-2 | PLXNA3 p.Arg108Cys | 17 | M | No | Normosmic | Absent puberty |
I II-1 | PLXNA3 p.Arg108Cys | 21 | M | No | Hyposmic | Absent puberty, cryptorchidism |
J II-1 | PLXNA3 p.Leu1086Val | 14 | M | Overweight | Normosmic | Absent puberty, micropenis |
K II-1 | PLXNA3 p.Arg1359Cys | 18 | F | Obese | Normosmic | Absent puberty, primary amenorrhea |
