[Genetic diagnosis of a case with primary ciliary dyskinesia type 29 by next generation sequencing]

Nan Shen; Chen Meng; Yi Liu; Zhongtao Gai

doi:10.3760/cma.j.issn.1003-9406.2019.03.008

[Genetic diagnosis of a case with primary ciliary dyskinesia type 29 by next generation sequencing]

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Mar 10;36(3):225-228. doi: 10.3760/cma.j.issn.1003-9406.2019.03.008.

[Article in Chinese]

Authors

Nan Shen¹, Chen Meng, Yi Liu, Zhongtao Gai

Affiliation

¹ Shandong Provincial Academy of Medical Science, School of Medical and Life Science, University of Ji'nan, Shandong 250022, China. gaizhongtao@sina.com.

PMID: 30835351
DOI: 10.3760/cma.j.issn.1003-9406.2019.03.008

Abstract

Objective: To explore the clinical and genetic features of a child with primary ciliary dyskinesia.

Methods: Genomic DNA of the child and her parents was extracted and subjected to targeted gene capture and next generation sequencing. Suspected mutation was verified by Sanger sequencing, with its nature and impact predicted by Bioinformatic analysis.

Results: Clinical manifestations of the child mainly included severe pneumonia, bronchiectasia, nasosinusitis and pneumothorax. DNA sequencing showed that she has carried compound heterozygous mutations of the CCNO gene, namely c.848T>C (p.L283P) and c.262_263 insGGCCCGGCCC (p.Q88Rfs*51), which were respectively inherited from her mother and father.

Conclusion: The child was diagnosed with primary ciliary dyskinesia caused by the compound heterozygous mutations of the CCNO gene.

MeSH terms

Base Sequence
Female
High-Throughput Nucleotide Sequencing*
Humans
Kartagener Syndrome* / genetics
Male
Mutation
Sequence Analysis, DNA