Primary Ciliary Dyskinesia (PCD) is a highly heterogeneous syndrome characterized by congenital impairment of mucociliary clearance (MCC). The underlying cause is a defect of cilia in the airways, making them unable to beat normally and move respiratory secretions. This defect also has an impact in sperm flagella, generating living but immotile spermatozoa and making patients infertile.
The most common defects causing this disease are found in any polypeptide within the axoneme of cilia, in proteins present in the ciliary membrane and matrix, or in proteins needed for the proper assembly of cilia. Depending on the component missing or defective, different clinical manifestations may develop, being the symptoms and disease onset dependent on the underlying genetic defect. Some mutations result in abnormal ultrastructure, while others cause abnormal function but preserved structure. Since nodal cilia are also defective in embryos, body asymmetry occurs randomly so that approximately 50 percent of the patients have situs inversus totalis. The mode of inheritance is mainly autosomal recessive.
The Igenomix Primary Ciliary Dyskinesia Precision Panel can be used to make an accurate and directed diagnosis as well as a differential diagnosis ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.
The Igenomix Primary Ciliary Dyskinesia Precision Panel is indicated for those patients with a clinical diagnosis or suspicion presenting with or without the following manifestations:
The clinical utility of this panel is:
|
GENE |
OMIM DISEASES |
INHERITANCE* |
% GENE COVERAGE (20X) |
CLINVAR** |
HGMD** |
|
CCDC103 |
Primary Ciliary |
AR |
99.92 |
4 of 4 |
6 of 6 |
|
CCDC39 |
Primary Ciliary |
AR |
99.56 |
30 of 36 |
48 of 52 |
|
CCDC40 |
Primary Ciliary |
AR |
98 |
35 of 35 |
50 of 50 |
|
CCDC65 |
Primary Ciliary |
AR |
99.98 |
4 of 4 |
3 of 3 |
|
CCNO |
Primary Ciliary |
AR |
99.94 |
19 of 19 |
12 of 12 |
|
CENPF |
Stromme Syndrome |
AR |
98.83 |
15 of 18 |
10 of 12 |
|
CFAP221 |
Primary Ciliary |
– |
89.78 |
– |
– |
|
CFAP298 |
Primary Ciliary |
AR |
– |
– |
– |
|
CFAP300 |
Primary Ciliary |
AR |
– |
– |
– |
|
DNAAF1 |
Primary Ciliary |
AR |
99.55 |
17 of 17 |
36 of 37 |
|
DNAAF11 |
Primary Ciliary |
AR |
99.88 |
14 of 14 |
21 of 21 |
|
DNAAF2 |
Primary Ciliary |
AR |
97.45 |
15 of 15 |
7 of 8 |
|
DNAAF3 |
Primary Ciliary |
AR |
98.95 |
14 of 15 |
13 of 14 |
|
DNAAF4 |
Primary Ciliary |
AD,AR |
99.27 |
– |
– |
|
DNAAF5 |
Primary Ciliary |
AR |
89.27 |
– |
– |
|
DNAAF6 |
Primary Ciliary |
X,XR,G |
99.63 |
– |
– |
|
DNAH1 |
Spermatogenic |
AR |
100 |
17 of 17 |
58 of 58 |
|
DNAH11 |
Primary Ciliary |
AR |
99.27 |
87 of 90 |
159 of 169 |
|
DNAH5 |
Primary Ciliary |
AR |
100 |
188 of 188 |
277 of 278 |
|
DNAH8 |
Spermatogenic |
AR |
99.75 |
24 of 25 |
12 of 12 |
|
DNAH9 |
Primary Ciliary |
AR |
98.86 |
7 of 7 |
19 of 19 |
|
DNAI1 |
Kartagener |
AR |
96.91 |
20 of 20 |
43 of 43 |
|
DNAI2 |
Primary Ciliary |
AR |
98.89 |
25 of 25 |
8 of 8 |
|
DNAJB13 |
Primary Ciliary |
AR |
99.94 |
2 of 2 |
3 of 3 |
|
DNAL1 |
Primary Ciliary |
AR |
99.43 |
4 of 4 |
5 of 5 |
|
DRC1 |
Primary Ciliary |
AR |
100 |
5 of 5 |
9 of 9 |
|
FOXJ1 |
Primary Ciliary |
AD |
99.69 |
4 of 4 |
5 of 5 |
|
GAS2L2 |
Primary Ciliary |
AR |
89 |
1 of 1 |
4 of 5 |
|
GAS8 |
Primary Ciliary |
AR |
99.98 |
4 of 4 |
6 of 6 |
|
HYDIN |
Primary Ciliary |
AR |
81.7 |
3 of 6 |
45 of 63 |
|
INVS |
Nephronophthisis, |
AR |
99.9 |
21 of 21 |
38 of 38 |
|
LRRC56 |
Primary Ciliary |
AR |
99.77 |
4 of 4 |
5 of 5 |
|
MCIDAS |
Primary Ciliary |
AR |
99.92 |
6 of 6 |
4 of 4 |
|
NEK10 |
Primary Ciliary |
AR |
99.95 |
4 of 4 |
3 of 3 |
|
NME8 |
Primary Ciliary |
AR |
99.99 |
1 of 1 |
9 of 9 |
|
ODAD1 |
Primary Ciliary |
AR |
99.68 |
7 of 9 |
10 of 10 |
|
ODAD2 |
Primary Ciliary |
AR |
97.3 |
19 of 20 |
26 of 28 |
|
ODAD3 |
Primary Ciliary |
AR |
95 |
10 of 10 |
4 of 4 |
|
ODAD4 |
Primary Ciliary |
AR |
– |
– |
– |
|
OFD1 |
Primary Ciliary |
X,XR,XD,G |
98.09 |
– |
– |
|
RPGR |
Primary Ciliary |
X,XR,G |
94 |
– |
– |
|
RSPH1 |
Primary Ciliary |
AR |
100 |
14 of 14 |
10 of 10 |
|
RSPH3 |
Primary Ciliary |
AR |
99.85 |
9 of 9 |
5 of 5 |
|
RSPH4A |
Primary Ciliary |
AR |
99.98 |
23 of 23 |
27 of 27 |
|
RSPH9 |
Primary Ciliary |
AR |
100 |
9 of 9 |
13 of 13 |
|
SPAG1 |
Primary Ciliary |
AR |
94.8 |
16 of 17 |
11 of 12 |
|
SPEF2 |
Spermatogenic |
AR |
99.6 |
6 of 7 |
10 of 13 |
|
STK36 |
Primary Ciliary |
– |
100 |
– |
5 of 5 |
|
TTC12 |
Primary Ciliary |
AR |
99.97 |
4 of 4 |
– |
|
ZMYND10 |
Primary Ciliary |
AR |
99.98 |
9 of 9 |
16 of 16 |
* Inheritance: AD: Autosomal Dominant; AR: Autosomal Recessive; X: X linked; XLR: X linked Recessive; Mi: Mitochondrial; Mu: Multifactorial; G: Gonosomal Inheritance; D: Digenic Inheritance
** HGMD: Number of clinically relevant mutations according to HGMD
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