Open AccessCCNO mutation as a cause of primary ciliary dyskinesia: A case report
Author(s) -
Yunyan Zhang,
Lianshan Yan,
Yaling Han,
Hao Tang
Publication year - 2022
Publication title -
world journal of clinical cases
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.368
H-Index - 10
ISSN - 2307-8960
DOI - 10.12998/wjcc.v10.i25.9148
Subject(s) - primary ciliary dyskinesia , medicine , bronchiectasis , nonsense mutation , frameshift mutation , exon , mutation , motile cilium , gene mutation , sputum , pathology , gastroenterology , cilium , gene , genetics , tuberculosis , missense mutation , lung , biology
Primary ciliary dyskinesia (PCD) is an uncommon and genetically diverse condition. According to reports, most patients had more than 50 visits before being diagnosed with PCD, and the age at diagnosis was mostly in preschool, with an average age of about (10.9 ± 14.4) years old. CCNO is a pathogenic gene that regulates the cell cycle, and its mutation is linked to the uncommon human genetic disorder PCD. Although the prevalence of the CCNO mutation is regarded to be exceptionally low, new reports of this mutation have increased in comparison to prior ones. PCD patients with CCNO are rare, and the incidence rate is no more than 2% in whole PCD patients.