Table 1 Clinical and molecular genetic features of the probands with Kallmann Syndrome.
From: Incidence, Phenotypic Features and Molecular Genetics of Kallmann Syndrome in Finland
| Â | Â | Â | Mutation | History of | Olfaction | Â | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Proband | Sex | Family history | Gene | Nucleotide change | Predicted effect | Micro- penis | Cryptor- chidism | Puberty | SIT | MRI of OB | Associated phenotypes in physical examination |
1 | F | No | FGFR1 | c.246_247delAG* | p.E84GfsX26 | Â | Â | No# | A | Absent | A missing tooth |
11 | F | KS, nHH | FGFR1 | c.142G > A | p.G48S | Â | Â | No | A | NA | None |
45 | F | Infertility | FGFR1 | c.961_962delAA | p.K321RfsX13 | Â | Â | No | A | Absent l.dx, small l.sin | None |
503 | F | KS | FGFR1 | c.1305_1306dupAT | p.S436YfsX3 | Â | Â | No | A | Absent | None |
54 | F | KS | FGFR1 | c.1825C > T | p.R609X | Â | Â | No | A | Absent | Cleft lip, two missing teeth, scoliosis |
13 | M | No | FGFR1 | c.626G > A | p.R209H | Yes | No | No | A | NA | None |
14 | M | KS | FGFR1 | c.961_962delAA | p.K321RfsX13 | NA | No | Partial§ | A | Rudimentary | None |
20 | M | nHH¤ | FGFR1 | c.2009A > C | p.E670A | Yes | No | No | A | NA | Cleft lip and palate |
50 | M | KS, nHH | FGFR1 | c.11G > A | p.W4X | NA | No | No | NA | NA | None |
2 | M | KS | KAL1 | g.2357_2360delAgta | Â | Yes | Bilat | No | A | NA | Synkinesia, a missing tooth |
4 | M | KS | KAL1 | c.784C > T | p.R262X | Yes | Bilat | No | A | NA | Synkinesia, left renal agenesis, rheumatoid arthritis |
9 | M | KS | KAL1 | c.471_472delCT | p.S158WfsX45 | NA | R | No | A | NA | Synkinesia, unilateral conductive hearing loss |