Genetic diagnosis of a case with primary ciliary dyskinesia type 29 by next generation sequencing.
10.3760/cma.j.issn.1003-9406.2019.03.008
- VernacularTitle:一例原发性纤毛运动障碍29型患儿CCNO基因突变分析
- Author:
Nan SHEN
1
;
Chen MENG
;
Yi LIU
;
Zhongtao GAI
Author Information
1. Shandong Provincial Academy of Medical Science, School of Medical and Life Science, University of Ji'nan, Shandong 250022, China. gaizhongtao@sina.com.
- Publication Type:Journal Article
- MeSH:
Base Sequence;
Female;
High-Throughput Nucleotide Sequencing;
Humans;
Kartagener Syndrome;
genetics;
Male;
Mutation;
Sequence Analysis, DNA
- From:
Chinese Journal of Medical Genetics
2019;36(3):225-228
- CountryChina
- Language:Chinese
-
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.
