Abstract
[...]significant obstruction (>50% of diameter) was identified along the main trachea and left bronchus during expiration, and some branches of the right bronchus also demonstrated obstruction (basal segment of the right lower lobe) [Figure 1A–1C]. The two mutations of c.6049C>G (Mutation Taster 0.944) and c.3754C>T (Mutation Taster 1.0) were both predicted to have protein-damaging and disease-causing effects. [...]for this case, the compound heterozygous mutations on PIEZO2 would lead to the loss-of-function of this gene, indicating insensitivity to mechanical stress-inducing cartilage maturation disorder. [...]the inactivity of the PIEZO2 channel would lead to deformation of the mechanical structure of chondrocyte-enriched tissues.
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1 Key Laboratory of Birth Defects and Related Diseases of Women and Children of MOE, West China Second University Hospital, Sichuan University, Chengdu, Sichuan 610041, China; Department of Nursing, West China Second University Hospital, Sichuan University, Chengdu, Sichuan 610041, China
2 Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, Sichuan 610041, China
3 Key Laboratory of Birth Defects and Related Diseases of Women and Children of MOE, West China Second University Hospital, Sichuan University, Chengdu, Sichuan 610041, China; Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, Sichuan 610041, China