期刊
FRONTIERS IN GENETICS
卷 13, 期 -, 页码 -出版社
FRONTIERS MEDIA SA
DOI: 10.3389/fgene.2022.1087818
关键词
primary ciliary dyskinesia; female infertility; DNAAF4 mutation; pathogenic mechanism; autosomal recessive inheritance
资金
- National Natural Science Foundation of China
- [82070070]
- [82270079]
In this study, a female patient with PCD was diagnosed through clinical manifestations, electron microscopy, and immunofluorescence staining. A novel DNAAF4 variant was identified through Whole-exome sequencing. The study confirmed that the mutation led to PCD by reducing the stability of DNAAF4 protein.
Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disorder that affects the structure and function of motile cilia, leading to classic clinical phenotypes, such as situs inversus, chronic sinusitis, bronchiectasis, repeated pneumonia and infertility. In this study, we diagnosed a female patient with PCD who was born in a consanguineous family through classic clinical manifestations, transmission electron microscopy and immunofluorescence staining. A novel DNAAF4 variant NM_130810: c.1118G > A (p. G373E) was filtered through Whole-exome sequencing. Subsequently, we explored the effect of the mutation on DNAAF4 protein from three aspects: protein expression, stability and interaction with downstream DNAAF2 protein through a series of experiments, such as transfection of plasmids and Co-immunoprecipitation. Finally, we confirmed that the mutation of DNAAF4 lead to PCD by reducing the stability of DNAAF4 protein, but the expression and function of DNAAF4 protein were not affected.
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