Figure 1.

Pedigree Structure and Segregation of Pathogenic Variants in GPC4

(A) Pedigrees showing the clinical phenotypes and segregation of the WT (+) and mutant (−) GPC4 allele. Affected individuals are shaded, Y indicates the Y chromosome, and carrier females are indicated by a dot.

(B) Representative images of X-inactivation analysis in one carrier female from families KS1 (I:1), KS2 (I:2), and KS3 (I:1) demonstrate extreme skewing of X inactivation, as evidenced by the inability of the methylation-sensitive restriction endonuclease HpaII to digest one allele of the androgen receptor (gray arrow). The second allele, with minimal methylation (black arrow), is almost fully digested by HpaII.