FIGURE 1.

Identification of biallelic TLE6 variants in the patients and their family members. (A) Pedigrees structure of three families harboring variants in TLE6, circles represent female patients, squares represent male patients, and black circles denote patients with primary infertility. The double line represents consanguinity, equal signs indicate infertility, and the arrow indicates the proband. Sanger sequencing verification is shown below the pedigrees. Red arrows indicate the mutated positions. (B) Schematic representation of the TLE6 gene and domain structure of its protein product. Black arrows indicate previously reported variants, while red arrows represent the novel variants identified in this study. Orange box represents a cluster of seven WD40 domain repeats. (C) Sequence alignment displays conservation of mutant residues in TLE6 among different species.