mutation as a cause of primary ciliary dyskinesia: A case report.

BACKGROUND

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. 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 mutation is regarded to be exceptionally low, new reports of this mutation have increased in comparison to prior ones. PCD patients with are rare, and the incidence rate is no more than 2% in whole PCD patients.

CASE SUMMARY

Here, we report a case of a young Chinese woman diagnosed with PCD, who was found to carry the gene by whole exon gene sequencing. In this case, a young non-smoking Chinese female exhibiting recurrent cough and sputum at birth. Chest computed tomography (CT) showed bronchiectasis with infection, and sinus CT showed chronic sinusitis. However, the patient had no visceral transposition and no history of infertility. Under electron microscope, it was found that cilia were short and reduced in number, and no power arm of cilia was observed. Whole exon sequencing analysis of the genome of the patient showed that the patient carried pathogenic gene, exon c.303C>A nonsense mutation and c.248_252dup frameshift mutation. Her clinical symptoms and CT images were improved after two months of treatment with aerosol inhalation and oral azithromycin.

CONCLUSION

The results showed that is an important cause of PCD. More mutant genes that may contribute to genetically diverse disorders like PCD have been discovered as sequencing technology has advanced. Furthermore, the increase of genetic information makes it easier to diagnose uncommon diseases in clinical practice.