![](/images/graphics-bg.png)
Whole-Exome Sequencing Identified a Novel Compound Heterozygous Mutation of LRRC6 in a Chinese Primary Ciliary Dyskinesia Patient
Joint Authors
Source
Issue
Vol. 2018, Issue 2018 (31 Dec. 2018), pp.1-5, 5 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2018-01-08
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Liu, Lv& Luo, Hong. 2018. Whole-Exome Sequencing Identified a Novel Compound Heterozygous Mutation of LRRC6 in a Chinese Primary Ciliary Dyskinesia Patient. BioMed Research International،Vol. 2018, no. 2018, pp.1-5.
https://search.emarefa.net/detail/BIM-1124696
Modern Language Association (MLA)
Liu, Lv& Luo, Hong. Whole-Exome Sequencing Identified a Novel Compound Heterozygous Mutation of LRRC6 in a Chinese Primary Ciliary Dyskinesia Patient. BioMed Research International No. 2018 (2018), pp.1-5.
https://search.emarefa.net/detail/BIM-1124696
American Medical Association (AMA)
Liu, Lv& Luo, Hong. Whole-Exome Sequencing Identified a Novel Compound Heterozygous Mutation of LRRC6 in a Chinese Primary Ciliary Dyskinesia Patient. BioMed Research International. 2018. Vol. 2018, no. 2018, pp.1-5.
https://search.emarefa.net/detail/BIM-1124696
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1124696