Fig. 1

Family pedigrees and corresponding FGFR1 and KAL1 mutations. a Family carrying the p.R254W (c. 760C > T) FGFR1 mutation. Squares represent males and circles females. Filled symbols denote the individual with KS (both hypogonadotropic hypogonadism and anosmia/hyposmia). Right half-filled symbols denote individuals with anosmia (subjects I-1 and III-2) and/or olfactory bulb aplasia/hypoplasia (subjects III-2 and IV-1). The propositus (subject III-2) is indicated by an arrow. Subject IV-1 was conceived following ovarian stimulation of the mother (subject III-2) with recombinant human FSH. Sonographic monitoring of the fetus showed signs of Kallmann syndrome (see also Fig. 3 and text). +: wildtype allele. b Results of automatic DNA FGFR1 sequencing encompassing the c. 760C > T heterozygous mutation in the propositus. c Family carrying the (c. 769C > T) KAL1 mutation. The propositus (subject I-3) in this family is indicated by an arrow. The open symbol containing a black dot indicates the unaffected carrier (subject I-2). The small crossed black circle (subject II-1) indicates medical termination of a first pregnancy following the discovery of bilateral kidney agenesis. This fetus carried the same p.R257X KAL1 mutation. In patient II-2, unilateral kidney agenesis was detected by sonography during fetal life, and KAL1 analysis at birth confirmed that he also carried the p.R257X KAL1 mutation in the hemizygous state (see text). d Results of automatic DNA KAL1 sequencing encompassing the hemizygous c. 769C > T mutation in the propositus