Abstract:
:Primary ciliary dyskinesia (PCD) is a clinical rare peculiar disorder, mainly featured by respiratory infection, tympanitis, nasosinusitis, and male infertility. Previous study demonstrated it is an autosomal recessive disease and by 2017 almost 40 pathologic genes have been identified. Among them are the leucine-rich repeat- (LRR-) containing 6 (LRRC6) codes for a 463-amino-acid cytoplasmic protein, expressed distinctively in motile cilia cells, including the testis cells and the respiratory epithelial cells. In this study, we applied whole-exome sequencing combined with PCD-known genes filtering to explore the genetic lesion of a PCD patient. A novel compound heterozygous mutation in LRRC6 (c.183T>G/p.N61K; c.179-1G>A) was identified and coseparated in this family. The missense mutation (c.183T>G/p.N61K) may lead to a substitution of asparagine by lysine at position 61 in exon 3 of LRRC6. The splice site mutation (c.179-1G>A) may cause a premature stop codon in exon 4 and decrease the mRNA levels of LRRC6. Both mutations were not present in our 200 local controls, dbSNP, and 1000 genomes. Three bioinformatics programs also predicted that both mutations are deleterious. Our study not only further supported the importance of LRRC6 in PCD, but also expanded the spectrum of LRRC6 mutations and will contribute to the genetic diagnosis and counseling of PCD patients.
journal_name
Biomed Res Intjournal_title
BioMed research internationalauthors
Liu L,Luo Hdoi
10.1155/2018/1854269subject
Has Abstractpub_date
2018-01-08 00:00:00pages
1854269eissn
2314-6133issn
2314-6141journal_volume
2018pub_type
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journal_title:BioMed research international
pub_type: 杂志文章
doi:10.1155/2014/696508
更新日期:2014-01-01 00:00:00
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journal_title:BioMed research international
pub_type: 杂志文章
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journal_title:BioMed research international
pub_type: 临床试验,杂志文章
doi:10.1155/2018/1868254
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journal_title:BioMed research international
pub_type: 杂志文章,随机对照试验
doi:10.1155/2018/8925345
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journal_title:BioMed research international
pub_type: 杂志文章
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journal_title:BioMed research international
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pub_type: 杂志文章
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journal_title:BioMed research international
pub_type: 杂志文章
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更新日期:2020-06-26 00:00:00
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journal_title:BioMed research international
pub_type: 杂志文章,评审
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更新日期:2015-01-01 00:00:00
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journal_title:BioMed research international
pub_type: 杂志文章
doi:10.1155/2015/350348
更新日期:2015-01-01 00:00:00
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pub_type: 杂志文章,评审
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journal_title:BioMed research international
pub_type: 临床试验,杂志文章
doi:10.1155/2019/1498034
更新日期:2019-05-12 00:00:00
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journal_title:BioMed research international
pub_type: 杂志文章
doi:10.1155/2014/560183
更新日期:2014-01-01 00:00:00
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journal_title:BioMed research international
pub_type: 杂志文章
doi:10.1155/2013/121030
更新日期:2013-01-01 00:00:00
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journal_title:BioMed research international
pub_type: 杂志文章,评审
doi:10.1155/2020/7874109
更新日期:2020-03-03 00:00:00
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journal_title:BioMed research international
pub_type: 杂志文章,meta分析
doi:10.1155/2018/3936706
更新日期:2018-11-11 00:00:00
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journal_title:BioMed research international
pub_type: 杂志文章
doi:10.1155/2017/9173040
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pub_type: 杂志文章
doi:10.1155/2014/680195
更新日期:2014-01-01 00:00:00
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journal_title:BioMed research international
pub_type: 杂志文章
doi:10.1155/2014/696475
更新日期:2014-01-01 00:00:00
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journal_title:BioMed research international
pub_type: 杂志文章,评审
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更新日期:2018-10-16 00:00:00
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pub_type: 杂志文章
doi:10.1155/2017/7501807
更新日期:2017-01-01 00:00:00
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journal_title:BioMed research international
pub_type: 杂志文章
doi:10.1155/2016/4535717
更新日期:2016-01-01 00:00:00
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journal_title:BioMed research international
pub_type: 杂志文章
doi:10.1155/2015/356729
更新日期:2015-01-01 00:00:00
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pub_type: 杂志文章,随机对照试验
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更新日期:2019-04-11 00:00:00
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journal_title:BioMed research international
pub_type: 杂志文章
doi:10.1155/2014/473419
更新日期:2014-01-01 00:00:00
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journal_title:BioMed research international
pub_type: 杂志文章
doi:10.1155/2016/3025057
更新日期:2016-01-01 00:00:00