|
rs145457535
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The <i>CCDC103</i> p.His154Pro mutation is more prevalent than previously thought in the South Asian community and causes primary ciliary dyskinesia that can be difficult to diagnose using pathology-based clinical tests.
|
28790179 |
2018 |
|
rs145457535
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Exome sequencing identified a homozygous missense variant in CCDC103 (c.461A > C; p.His154Pro) as the most likely cause of the PCD and laterality defects in this family.
|
26123568 |
2015 |
|
rs72552725
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Concerning the PCD causing variant (rs72552725:A > G) in the SLC22A5 gene we observe full genotype concordance between DBS and WB for all three samples.
|
30765883 |
2019 |
|
rs116298211
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this study, we performed genetic investigation of two siblings presenting MMAF without any respiratory PCD features, and we report the identification of the c.2018T > G (p.Leu673Pro) transversion in AK7, encoding an adenylate kinase, expressed in ciliated tissues and testis.
|
29365104 |
2018 |
|
rs200395672
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The novel compound heterozygous mutation, c.1354C>T and c.710A>G, in POC1B was identified in the patient, the mutations were segregated with the PCD phenotype in the family and were absent from ethnically matched control chromosomes.
|
29377742 |
2018 |
|
rs373717036
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To identify gene mutations that cause PCD, we performed exome sequencing to analyze genome of this patient, and discovered a previously uncharacterized mutant alleles (NM_001243342.1:c.2609G>A; p. R870H) in CCDC40 gene.
|
25619595 |
2016 |
|
rs587777779
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We observed a novel nonsense mutation in a homozygous state in the CCDC151 gene (NM_145045.4:c.925G>T:p.[E309*]) in a clinically diagnosed PCD patient from a consanguineous family of Arabic ancestry.
|
25224326 |
2014 |
|
rs886043448
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our findings showed that c. 8030G>A of DNAH5 may be implicated as the disease-causing gene of CRS and PCD in this Chinese family, which may expand the understanding of clinicians on the pathogenesis of CRS.
|
24150548 |
2014 |
|
rs771663107
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Children with PCD from an Amish family from Wisconsin had biallelic DNAH5 mutations, c.4348C>T (p.Q1450X) and c.10815delT (p.P3606HfsX23), and mutations in other genes associated with PCD were also identified in this community.
|
23477994 |
2013 |
|
rs397515414
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Parallel whole-exome sequencing identified a homozygous nonsense HYDIN mutation, c.922A>T (p.Lys307(∗)), in six individuals from three Faroe Island PCD-affected families that all carried an 8.8 Mb shared haplotype across HYDIN, indicating an ancestral founder mutation in this isolated population.
|
23022101 |
2012 |
|
rs368248592
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The Polish cohort was compared with all the previously studied PCD groups (a total of 487 families): IVS1+2-3insT remained the most prevalent pathogenetic change in DNAI1 (54% of the mutations identified worldwide), and the increased global prevalence of A538T (14%) was due to the contribution of the Polish cohort.
|
21143860 |
2010 |