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).