Novel biallelic mutationsin TMEM126B cause splicing defects and lead to Leigh syndrome with severe complex Ideficiency
Xiyue Zhou1, #, Xiaoting Lou2, #, Yuwei Zhou1, Yaojun Xie1, Qiyu Dong1, Xiaojie Ying1, Mahlatsi Refiloe Laurentinah1, Luyi Zhang1, Zhehui Chen3, Dongxiao Li3, Hezhi Fang1, *, Jianxin Lyu1, 4, *, Yanling Yang3, * and Ya Wang1, *
1 Key Laboratory of Laboratory Medicine, Ministry of Education, Zhejiang Provincial Key Laboratory of Medical Genetics, School of Laboratory Medicine and Life sciences, Wenzhou Medical University, Wenzhou 325035, Zhejiang, China;
2 Department of Genetic and Genomic Medicine, Zhejiang Provincial People’s Hospital (Affiliated People’s Hospital, Hangzhou Medical College), Hangzhou, Zhejiang 310014, China;
3 Department of Pediatrics, Peking University First Hospital, Beijing 100034, China;
4 Zhejiang Provincial People’s Hospital, Affiliated People’s Hospital of Hangzhou Medical College, Hangzhou, Zhejiang 310053, China.
# The authors contribute equally.
* Correspondence: Hezhi Fang (fangh@wmu.edu.cn); Jianxin Lyu (jxlu313@163.com); Yanling Yang (organic.acid@126.com); Ya Wang (yawang@wmu.edu.cn).