R31C GNRH1 Mutation and Congenital Hypogonadotropic Hypogonadism
Figure 1
Pedigree of nCHH families carrying c.91C>T (p.R31[R, C]) GNRH1 mutation.
In the family 1, the propositus (II.1) has a de novo mutation and his filiation has been confirmed by DNA microsatellites. In the family 2 the mutation was transmitted from the mother (I.2) to her son (II.1). She required medical assistance for procreation. Clinical and demographic data of all patients are reported in Table 1. Electropherogram represents the heterozygous mutation in the individual II.1 from family 1. In the panel below, pre-pro-GnRH amino acid sequence conservation. Decapeptide is shown in red.