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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

    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
  1. *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.
  2. SIT, The Smell Identification Test; OB, olfactory bulbs; F, female; M, male; nHH, normosmic HH; R, right; A, anosmia; NA, not assessed
  3. FGFR1 MIM# 136350; RefSeq NM_023110.2, gi:105990521
  4. KAL1 MIM# 308700; RefSeq NM_000216.2, gi:119395745