Figure 1.

Haplotypes of probands with GNRHR R262Q. For each STR marker, the number of dinucleotide repeats is shown. Seven probands (numbers 1–3, 6, 7, 11, and 12) had the shared haplotype deduced from fully phased samples. Most probands were Caucasians except proband number 2 (Mexican) and proband number 3 (South Asian). Two probands (numbers 3 and 7) had hypothalamic amenorrhea, whereas the remaining probands had Kallmann syndrome or normosmic idiopathic hypogonadotropic hypogonadism. Blue horizontal lines display the individual haplotypes, with pink horizontal lines showing the haplotype regions identical with each other. The minimum common haplotype shared by all probands is marked with vertical dotted lines. Subject 7 was homozygous for this mutation and his two haplotypes are labeled a and b.