Fig. 1.

Identification of PADI6 and TLE6 mutations in two affected families. a The pedigree of family 1 is affected by the mutation of PADI6. b The pedigree of family 2 carrying the TLE6 mutation. The two affected individuals exhibited homozygous mutations with a recessive inheritance pattern. Sanger sequencing confirmation was demonstrated next to the pedigrees. Black circles with arrows indicate the affected individuals. Semi-filled symbols indicate the heterozygous mutation carriers. The double lines denote consanguinity and the equal signs represent infertility