Fig. 1

Pairwise kinship coefficients were calculated using VCFTOOLS relatedness2 function to determine the relatedness between each pair of cases in our cohort, which included two Taiwanese patients with a disorder of sex development (DSD) and one Caucasian with Noonan syndrome (NS) serving as controls. P6 and P7 were excluded from the analysis since they are siblings. The kinship values ranged from the lowest at 0.043826 to the highest at 0.127509. The Caucasian with Noonan syndrome was the most unrelated individual to the other cases, while the Taiwanese individuals, regardless of having ciliopathy or DSD, exhibited similar kinship values, reflecting the genetic background of the Taiwanese population