Los síndromes de Ehlers-Danlos (EDS) son un grupo heterogéneo clínica y genéticamente de trastornos del tejido conectivo, donde el defecto genético afecta la síntesis y estructura del colágeno y del tejido conectivo. Se caracteriza por hipermovilidad, fragilidad cutánea e hiperextensibilidad. Dado que el tejido conectivo es el tejido que ayuda al crecimiento del cuerpo y sirve como andamio para las células y los órganos, Ehlers-Danlos es un síndrome pleiotrópico que afecta la piel, las articulaciones y los vasos sanguíneos. Clásicamente se ha dividido en seis tipos (clásico, hipermóvil, vascular, cifoescoliótico, artrocalasis y dermatosparaxis), donde la anomalía del colágeno subyacente es diferente para cada tipo. En algunos casos, la EDS puede poner en peligro la vida, mientras que en otros, las personas llevan una vida relativamente tranquila. El SED puede tener una superposición fenotípica con afecciones como la enfermedad de Marfan y la cutis laxa.
El panel de precisión del síndrome de Igenomix Ehlers-Danlos se puede utilizar para realizar un diagnóstico preciso y directo, así como un diagnóstico diferencial de los trastornos del tejido conectivo debido a sus características fenotípicas superpuestas, lo que finalmente conduce a un mejor manejo y pronóstico de la enfermedad. Proporciona un análisis completo de los genes involucrados en esta enfermedad utilizando secuenciación de próxima generación (NGS) para comprender completamente el espectro de genes relevantes involucrados.
El panel de precisión del síndrome de Igenomix Ehlers-Danlos está indicado para aquellos pacientes con sospecha clínica o diagnóstico de SED que presenten:
La utilidad clínica de este panel es:
|
Gene |
OMIM Diseases |
Inheritance* |
% Gene Coverage (20x) |
HGMD** |
|
ABCA3 |
Idiopathic Pulmonary |
AR |
100% |
286 of 289 |
|
ARHGEF1 |
Immunodeficiency |
AR |
90.23% |
2 of 2 |
|
ATM |
Ataxia-telangiectasia |
AD,AR |
99.93% |
1608 of 1632 |
|
ATP11A |
IdiopathicPulmonary |
– |
99.97% |
NA of NA |
|
B2M |
Familial Visceral |
AD,AR |
100% |
4 of 4 |
|
BACH2 |
Immunodeficiency |
AD |
99.89% |
2 of 2 |
|
BLM |
Bloom Syndrome |
AR |
97.19% |
133 of 141 |
|
BLNK |
AutosomalRecessive- |
AR |
97.97% |
6 of 6 |
|
BTNL2 |
Sarcoidosis |
AD |
99.98% |
1 of 1 |
|
CARMIL2 |
Immunodeficiency |
AR |
96.16% |
NA of NA |
|
CCDC103 |
Primary Ciliary |
AR |
99.92% |
6 of 6 |
|
CCDC39 |
Primary Ciliary |
AR |
99.56% |
48 of 52 |
|
CCDC40 |
Primary Ciliary |
AR |
98% |
50 of 50 |
|
CCDC65 |
Primary Ciliary |
AR |
99.98% |
3 of 3 |
|
CCNO |
Primary Ciliary |
AR |
99.94% |
12 of 12 |
|
CD19 |
Common Variable |
AD,AR |
99.99% |
7 of 7 |
|
CD79A |
AutosomalRecessive- |
AR |
99.99% |
8 of 8 |
|
CD79B |
AutosomalRecessive- |
AR |
100% |
3 of 3 |
|
CD81 |
Common Variable |
AR |
100% |
2 of 2 |
|
CD8A |
Familial CD8 |
AR |
99.60% |
1 of 1 |
|
CFAP221 |
PrimaryCiliary- |
– |
89.78% |
NA of NA |
|
CFAP298 |
Primary Ciliary |
AR |
na |
na |
|
CFAP300 |
Primary Ciliary |
AR |
na |
na |
|
CFTR |
Bronchiectasis, |
AD,AR |
95.45% |
1615 of 1730 |
|
CLCA4 |
Cystic Fibrosis |
– |
97.66% |
NA of NA |
|
CR2 |
Common Variable |
AD,AR |
99.92% |
19 of 19 |
|
CTLA4 |
Autoimmune |
AD |
99.97% |
60 of 60 |
|
CXCR4 |
WhimSyndrome |
AD |
100% |
19 of 19 |
|
DCTN4 |
Cystic Fibrosis |
– |
100% |
1 of 1 |
|
DNAAF1 |
Primary Ciliary |
AR |
99.55% |
36 of 37 |
|
DNAAF2 |
Primary Ciliary |
AR |
97.45% |
7 of 8 |
|
DNAAF3 |
Primary Ciliary |
AR |
98.95% |
13 of 14 |
|
DNAAF4 |
Primary |
AD,AR |
99.27% |
NA of NA |
|
DNAAF5 |
Primary Ciliary |
AR |
89.27% |
NA of NA |
|
DNAAF6 |
Primary Ciliary |
X,XR,G |
99.63% |
NA of NA |
|
DNAH1 |
Primary |
AR |
100% |
58 of 58 |
|
DNAH11 |
Primary Ciliary |
AR |
99.27% |
159 of 169 |
|
DNAH17 |
Spermatogenic- |
AR |
99.99 |
12 of 12 |
|
DNAH5 |
Primary Ciliary |
AR |
100% |
277 of 278 |
|
DNAH8 |
Primary Ciliary |
– |
99.75% |
12 of 12 |
|
DNAH9 |
Primary Ciliary |
AR |
98.86% |
19 of 19 |
|
DNAI1 |
Kartagener Syndrome, |
AR |
96.91% |
43 of 43 |
|
DNAI2 |
Primary Ciliary |
AR |
98.89% |
8 of 8 |
|
DNAJB13 |
Primary Ciliary |
AR |
99.94% |
3 of 3 |
|
DNAL1 |
Primary Ciliary |
AR |
99.43% |
5 of 5 |
|
DNMT3B |
Immunodeficiency- |
AR |
100% |
59 of 59 |
|
DPP9 |
IdiopathicPulmonary |
– |
93.97% |
1 of 1 |
|
DRC1 |
Primary Ciliary |
AR |
100% |
9 of 9 |
|
DSP |
IdiopathicPulmonary |
AD,AR |
99.91% |
366 of 369 |
|
FAM13A |
IdiopathicPulmonary |
– |
99.91% |
NA of NA |
|
FCGR2A |
Cystic Fibrosis, |
AD,AR |
93.97% |
NA of NA |
|
FOXJ1 |
Primary Ciliary |
AD |
99.69% |
5 of 5 |
|
GAS2L2 |
Primary Ciliary |
AR |
89% |
4 of 5 |
|
GAS8 |
Primary Ciliary |
AR |
99.98% |
6 of 6 |
|
HLA-DRB1 |
Diffuse Cutaneous |
AD,MU |
97.19% |
2 of 2 |
|
HYDIN |
Primary Ciliary |
AR |
81.70% |
45 of 63 |
|
ICOS |
Common Variable |
AD,AR |
100% |
4 of 5 |
|
IGHM |
AutosomalRecessive- |
AR |
100% |
NA of NA |
|
IGLL1 |
AutosomalRecessive |
AR |
100% |
2 of 2 |
|
IL21R |
IL21R Immunodeficiency |
AR |
99.97% |
10 of 10 |
|
IL6ST |
Hyper-IgE Recurrent |
AR |
99.34% |
2 of 2 |
|
IRF8 |
Immunodeficiency 32A, |
AD,AR |
100% |
9 of 9 |
|
IRF9 |
Immunodeficiency, |
AR |
100% |
5 of 5 |
|
LRBA |
Common Variable |
AR |
99.91% |
79 of 81 |
|
LRRC56 |
Primary Ciliary |
AR |
99.77% |
5 of 5 |
|
LRRC6 |
Primary Ciliary |
AR |
99.88% |
21 of 21 |
|
LRRC8A |
AutosomalDominant- |
AD |
100% |
2 of 2 |
|
MCIDAS |
Primary Ciliary |
AR |
99.92% |
4 of 4 |
|
MS4A1 |
Common Variable |
AR |
100% |
2 of 2 |
|
MUC5B |
IdiopathicPulmonary |
AD |
99.89% |
12 of 12 |
|
NBN |
NijmegenBreakage- |
AR,MU,P |
100% |
200 of 200 |
|
NCKAP1L |
Immunodeficiency |
AR |
100% |
NA of NA |
|
NEK10 |
Primary Ciliary |
AR |
99.95% |
3 of 3 |
|
NFKB1 |
Common Variable |
AD |
99.98% |
38 of 41 |
|
NFKB2 |
Common Variable |
AD |
100% |
22 of 22 |
|
NME8 |
Primary Ciliary |
AR |
99.99% |
9 of 9 |
|
ODAD1 |
Primary Ciliary |
AR |
99.68% |
10 of 10 |
|
ODAD2 |
Primary Ciliary |
AR |
97.30% |
26 of 28 |
|
ODAD3 |
Primary Ciliary |
AR |
95% |
4 of 4 |
|
ODAD4 |
Primary Ciliary |
AR |
na |
na |
|
OFD1 |
PrimaryCiliary- |
X,XR,XD,G |
98.09% |
NA of NA |
|
PARN |
Idiopathic Pulmonary |
AD,AR |
99.98% |
33 of 33 |
|
PGM3 |
Immunodeficiency |
AR |
99.99% |
17 of 17 |
|
PIK3CD |
Combined |
AD |
100% |
23 of 23 |
|
PIK3R1 |
AutosomalRecessive- |
AD,AR |
99.89% |
29 of 29 |
|
POLD1 |
Mandibular Hypoplasia, |
AD |
100% |
40 of 41 |
|
PRKCD |
Autoimmune |
AR |
100% |
9 of 9 |
|
RAC2 |
Immunodeficiency |
AD,AR |
100% |
5 of 5 |
|
RASGRP1 |
Autoimmune |
AR |
98.41% |
8 of 9 |
|
RIN2 |
Macrocephaly, |
AR |
99.60% |
4 of 4 |
|
RIPK1 |
Autoinflammation |
AD,AR |
98.03% |
12 of 14 |
|
RPGR |
Primary Ciliary |
X,XR,G |
94% |
NA of NA |
|
RSPH1 |
Primary Ciliary |
AR |
100% |
10 of 10 |
|
RSPH3 |
Primary Ciliary |
AR |
99.85% |
5 of 5 |
|
RSPH4A |
Primary Ciliary |
AR |
99.98% |
27 of 27 |
|
RSPH9 |
Primary Ciliary |
AR |
100% |
13 of 13 |
|
RTEL1 |
Dyskeratosis |
AD,AR |
99.73% |
127 of 131 |
|
SCNN1A |
Bronchiectasis |
AD,AR |
99.95% |
46 of 46 |
|
SCNN1B |
Idiopathic- |
AD,AR |
100% |
56 of 56 |
|
SCNN1G |
Bronchiectasis With |
AD,AR |
100% |
28 of 28 |
|
SFTPA1 |
Idiopathic |
100% |
4 of 4 |
|
|
SFTPA2 |
Idiopathic |
AD |
99.98% |
6 of 6 |
|
SFTPC |
Idiopathic |
AD |
99.84% |
83 of 83 |
|
SLC29A3 |
Histiocytosis- |
AR |
100% |
32 of 32 |
|
SPAG1 |
Primary Ciliary |
AR |
94.80% |
11 of 12 |
|
SPEF2 |
PrimaryCiliary |
AR |
99.60% |
10 of 13 |
|
STAT1 |
Autoimmune |
AD,AR |
100% |
138 of 138 |
|
STK36 |
PrimaryCiliary |
– |
100% |
5 of 5 |
|
STN1 |
IdiopathicPulmonary |
AR |
99.87% |
NA of NA |
|
STX1A |
Cystic Fibrosis |
– |
97% |
3 of 3 |
|
TAP1 |
Bare Lymphocyte |
AR |
100% |
7 of 7 |
|
TAP2 |
Bare Lymphocyte |
AR |
100% |
9 of 9 |
|
TAPBP |
Bare Lymphocyte |
AR |
93.99% |
1 of 1 |
|
TCF3 |
AutosomalDominant |
AD |
99.98% |
7 of 7 |
|
TERC |
Dyskeratosis |
AD |
na |
na |
|
TERT |
Dyskeratosis Congenita, |
AD,AR |
99.09% |
194 of 197 |
|
TGFB1 |
Cystic Fibrosis, |
AD,AR |
99.75% |
24 of 24 |
|
TNFRSF13B |
Common Variable |
AD,AR |
100% |
50 of 50 |
|
TNFRSF13C |
Common Variable |
AD,AR |
99.20% |
3 of 3 |
|
TNFSF12 |
Common Variable |
– |
95.06% |
1 of 1 |
|
TTC12 |
Primary Ciliary |
AR |
99.97% |
NA of NA |
|
WDR1 |
Periodic Fever, |
AR |
100% |
9 of 9 |
|
ZMYND10 |
Primary Ciliary |
AR |
99.98% |
16 of 16 |
|
ZNF341 |
Autosomal Recessive |
AR |
100% |
6 of 6 |
* Herencia: AD: Autosómico Dominante; AR: autosómico recesivo; X: ligado a X; XLR: recesivo vinculado a X; Mi: mitocondrial; Mu: multifactorial; G: herencia gonosomal; D: herencia digénica
** HGMD: número de mutaciones clínicamente relevantes según HGMD
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