A rare case with compound heterozygous mutations of piezo-type mechanosensitive ion channel component 2 (PIEZO2) induced tracheobronchomalacia

[...]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 Tast...

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Bibliographic Details
Published inChinese medical journal Vol. 134; no. 10; pp. 1254 - 1256
Main Authors Wu, Juan, Zhong, Lin, Chen, Ting, Qiu, Li, Li, Yi-Fei
Format Journal Article
LanguageEnglish
Published China Lippincott Williams & Wilkins Ovid Technologies 20.05.2021
Lippincott Williams & Wilkins
Wolters Kluwer
Subjects
Cartilage
Consent
Correspondence
Cyanosis
Disease
Dyspnea
Genes
Humans
Ion Channels - genetics
Mutation
Pediatrics
Tracheobronchomalacia
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Summary:[...]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.
ISSN:0366-6999
2542-5641
DOI:10.1097/CM9.0000000000001500