Whole-exome sequencing identified novel DNAH5 homozygous variants in two consanguineous families with primary ciliary dyskinesia

High-speed video analysis (HSVA) showed immotile cilia of the patient [Supplementary Video 1, http://links.lww.com/CM9/B640], and electron microscopy of the cilia showed a significant ODA defect [Figure 1E]. [2] According to guidelines, genetic testing, immunofluorescence, nNO measurement, HSVA, and...

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Bibliographic Details
Published in:Chinese medical journal 2024-01, Vol.137 (1), p.115-116
Main Authors: Yang, Binyi, Lei, Cheng, Xu, Yingjie, Yang, Danhui, Lu, Chenyang, Liu, Ying, Guo, Ting, Luo, Hong
Format: Article
Language:English
Subjects:
Consent
Correspondence
Critical care
Dyskinesia
Genetic testing
Genomics
Infertility
Microscopy
Mutation
Patients
Sinusitis
Sperm
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Summary:High-speed video analysis (HSVA) showed immotile cilia of the patient [Supplementary Video 1, http://links.lww.com/CM9/B640], and electron microscopy of the cilia showed a significant ODA defect [Figure 1E]. [2] According to guidelines, genetic testing, immunofluorescence, nNO measurement, HSVA, and transmission electron microscopy (TEM) are important diagnostic methods for PCD. With the development of sequencing technology and cost reduction, genetic testing is becoming an important method for PCD diagnosis in bronchiectasis patients.
ISSN:0366-6999
2542-5641
DOI:10.1097/CM9.0000000000002736