Table 1.
Clinical and molecular genetic features of the probands with Kallmann Syndrome.
| Mutation | History of | Olfaction | |||||||||
| 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 | No# | A | Absent | A missing tooth | ||
| 11 | F | KS, nHH | FGFR1 | c.142G > A | p.G48S | No | A | NA | None | ||
| 45 | F | Infertility | FGFR1 | c.961_962delAA | p.K321RfsX13 | No | A | Absent l.dx, small l.sin | None | ||
| 503 | F | KS | FGFR1 | c.1305_1306dupAT | p.S436YfsX3 | No | A | Absent | None | ||
| 54 | F | KS | FGFR1 | c.1825C > T | p.R609X | 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 | 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 |
*de novo -mutation; #Testicular volume less than 4 mL in males or no spontaneous thelarche in females; §Testicular volume 6 mL at the age of 33; ¤A brother with normosmic HH, cleft lip and palate, and limb anomalies.
SIT, The Smell Identification Test; OB, olfactory bulbs; F, female; M, male; nHH, normosmic HH; R, right; A, anosmia; NA, not assessed
FGFR1 MIM# 136350; RefSeq NM_023110.2, gi:105990521
KAL1 MIM# 308700; RefSeq NM_000216.2, gi:119395745