El síndrome de Marfan (MFS) es un espectro de trastornos causados por un defecto genético del tejido conectivo y se hereda con un patrón autosómico dominante. Dado que el tejido conectivo es el tejido que ayuda al crecimiento del cuerpo y sirve como andamio para las células y los órganos, el síndrome de Marfan es un síndrome pleiotrópico que afecta principalmente a los sistemas musculoesquelético, cardíaco y ocular. Las más graves de estas manifestaciones incluyen la dilatación y disección de la raíz aórtica, que son responsables de la muerte temprana del paciente. El embarazo es un momento de mayor riesgo cardiovascular para las mujeres con síndrome de Marfan, por lo que un diagnóstico temprano es clave en el manejo del embarazo.
El panel de precisión del síndrome de Igenomix Marfan 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 que, en última instancia, conducen 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 Síndrome de Igenomix Marfan está indicado para aquellos pacientes con sospecha clínica o diagnóstico con o sin las siguientes manifestaciones:
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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