2.1 Clinical report
The proband (III-3) was a 21-year-old male who was admitted to Tongji Hospital of Tongji Medical College of Huazhong University of Science and Technology (Wuhan, China) due to his leg deformity with limited physical activity. The clinical examination concluded that the proband was diagnosed with HME at orthopedics department. Three generations of the patient family were included in this study with five individuals having HME (Fig. 1 ). In the study, the proband’s cousin (III-2) requested a premarital genetic counseling in Tongji Hospital to learn her HME-risk status.