Figure 2.

Pedigrees of the families with EAP1 mutations with proband growth charts. (A and B) Squares indicate male family members and circles indicate female family members. Black symbols represent clinically affected, gray symbols represent unknown phenotype and clear symbols represent unaffected individuals. ‘P’ indicates the proband in each family and ‘us’ indicates un-sequenced due to lack of DNA from that individual. A horizontal black line above an individual’s symbol indicates they are heterozygous for that mutation as confirmed by either WES or Fluidigm array and verified by Sanger sequencing. (A′, A^″, B^′ and B″) Height and height SDS charts for the probands of each of the two pedigrees. Tanner genital stage (G stage), Tanner pubic hair stage (P stage), testicular volume, standardized (S)-testosterone, LH and FSH values are given for each proband at various time points. Normal values, based on data from >70 000 healthy Finnish children, have been previously published (15). TH means target height based on mid-parental heights. Green dots connected by continuous black lines indicate bone age at the corresponding chronological age (blue dots), as estimated by the Greulich and Pyle method.