Fig. 1.

Identification of TLE6 mutations in affected individuals. Pedigrees of family 1 (a), family 2 (b), and family 3 (c) carrying TLE6 mutations that lead to embryonic arrest. Sanger sequencing confirmation and homozygosity mapping are shown next to the pedigrees. Squares denote males and circles denote females, filled symbols represent patients with primary infertility, and open symbols represent unaffected individuals. Homozygous regions harboring the strongest signal are indicated in red, and the asterisk (*) indicates the area where TLE6 is located