Table 1.
PROKR2 and PROK2 Mutations in Kallmann Syndrome
Figure 1.
Segregation of Kallmann Syndrome and the PROKR2 or PROK2 Mutations in Affected Families
Filled symbols denote clinically affected individuals with both hypogonadism and anosmia (or hyposmia). Half-filled symbols denote individuals with either anosmia only (right black part) or hypogonadism only (left black part). Genotypes, if available, are indicated below. The symbol + denotes normal allele, and fs stands for frameshift mutation. In several pedigrees the mutation is associated with varying phenotypes. Notably, in family A the disease apparently segregates according to a semi-dominant mode of transmission. The schematic representation of PROKR2 shows the locations of the nine missense mutations found in familial and non-familial KS cases, with respect to the putative N-terminal (N ter), C-terminal (C ter), extracellular loop (e1-e3), intracellular loop (i1-i3), and transmembrane (T1–T7) domains [13] of this G protein-coupled receptor.