La osteopetrosis, también conocida como “enfermedad de los huesos de mármol”, es un término que hace referencia a un grupo de enfermedades esqueléticas que se caracterizan por un aumento generalizado de la densidad ósea debido a una resorción ósea defectuosa por los osteoclastos, las células encargadas de esta función en el tejido óseo.
El Igenomix Osteopetrosis Precisión Panel está indicado para aquellos pacientes con sospecha de diagnóstico clínico de osteogénesis imperfecta que presenten las siguientes manifestaciones:
La utilidad clínica de este panel es:
|
GENE |
OMIM DISEASES |
INHERITANCE* |
% GENE COVERAGE (20X) |
HGMD** |
|
AMER1 |
Osteopathia Striata With Cranial Sclerosis Syndrome |
X,XD,G |
99.45% |
NA of NA |
|
ANKH |
Chondrocalcinosis, Autosomal Dominant Craniometaphyseal Dysplasia, Calcium Pyrophosphate Deposition |
AD |
100% |
19 of 19 |
|
CA2 |
Osteopetrosis With Renal Tubular Acidosis, Autosomal Recessive Osteopetrosis |
AR |
100% |
36 of 36 |
|
CLCN7 |
Albers-Schonberg Osteopetrosis, Autosomal Recessive Malignant Osteopetrosis, Hypopigmentation, Organomegaly, And Delayed Myelination And Development, Intermediate Autosomal Dominant Osteopetrosis, Autosomal Recessive Osteopetrosis |
AD,AR |
99.85% |
109 of 111 |
|
CSF1R |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis, Familial Progressive Subcortical Gliosis |
AD,AR |
100% |
122 of 124 |
|
CTSK |
Pycnodysostosis |
AR |
99.97% |
59 of 59 |
|
DLX3 |
Amelogenesis Imperfecta Type IV, Tricho-Dento-Osseous Syndrome |
AD |
100% |
10 of 10 |
|
FERMT3 |
Leukocyte Adhesion Deficiency Type III |
AR |
100% |
17 of 17 |
|
GJA1 |
Alopecia Congenita With Keratosis Palmoplantaris, Atrioventricular Septal Defect, Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia, Craniometaphyseal Dysplasia, Erythrokeratodermia Variabilis, Hypoplastic Left Heart Syndrome, Oculodentodigital Dysplasia, Syndactyly Type 3 |
AD,AR,MU,O |
100% |
119 of 119 |
|
IKBKG |
Ectodermal Dysplasia And Immunodeficiency, Incontinentia Pigmenti |
X,XR,XD,G |
38.16% |
NA of NA |
|
LEMD3 |
12q14 Microdeletion Syndrome, Buschke-Ollendorff Syndrome, Isolated Osteopoikilosis, Melorheostosis With Osteopoikilosis |
AD |
99.06% |
30 of 33 |
|
LRP4 |
Cenani-Lenz Syndactyly Syndrome, Congenital Myasthenic Syndrome, Sclerosteosis |
AD,AR |
100% |
32 of 32 |
|
LRP5 |
Autosomal Dominant Endosteal Hyperostosis, Exudative Vitreoretinopathy, Hyperostosis Corticalis Generalisata, Autosomal Dominant Osteopetrosis, Osteoporosis-Pseudoglioma Syndrome, Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome, Polycystic Liver Disease With Or Without Kidney Cysts, Retinopathy Of Prematurity, Van Buchem Disease Type 2 |
AD,AR |
98.12% |
265 of 269 |
|
LRRK1 |
Osteosclerotic Metaphyseal Displasia, Albers-Schonberg Osteopetrosis |
|
99.66% |
6 of 6 |
|
MITF |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness, Familial Melanoma Cutaneous Malignant, Tietz Syndrome, Waardenburg Syndrome Type 2, Waardenburg-Shah Syndrome |
AD,AR |
100% |
72 of 72 |
|
OSTM1 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia, Autosomal Recessive Osteopetrosis, Autosomal Recessive |
AR |
100% |
8 of 9 |
|
PLEKHM1 |
Intermediate Osteopetrosis,o Autosomal Dominant Osteopetrosis, Autosomal Recessive Osteopetrosis |
AD,AR |
99.97% |
4 of 4 |
|
PTDSS1 |
Lenz-Majewski Hyperostotic Dwarfism |
AD |
100% |
7 of 7 |
|
PTH1R |
Blomstrand Lethal Chondrodysplasia, Dental Noneruption, Eiken Skeletal Dysplasia, Metaphyseal Chondrodysplasia, Jansen Type, Ollier Disease |
AD,AR |
100% |
48 of 48 |
|
RELA |
Ependymoma, Chronic Mucocutaneous Ulceration |
AD |
99.83% |
3 of 3 |
|
SLC29A3 |
Dysosteosclerosis, Histiocytosis-Lymphadenopathy Plus Syndrome |
AR |
100% |
32 of 32 |
|
SLCO2A1 |
Primary Autosomal Recessive Hypertrophic Osteoarthropathy, Pachydermoperiostosis |
AR |
99.98% |
82 of 82 |
|
SNX10 |
Autosomal Recessive Malignant Osteopetrosis |
AR |
100% |
14 of 14 |
|
SOST |
Autosomal Dominant Craniodiaphyseal Dysplasia, Hyperostosis Corticalis Generalisata, Sclerosteosis |
AD,AR |
99.87% |
14 of 14 |
|
TBXT |
Neural Tube Defects, Sacral Agenesis With Vertebral Anomalies |
AD,AR |
99.91% |
NA of NA |
|
TCIRG1 |
Autosomal Dominant Severe Congenital Neutropenia, Autosomal Recessive Malignant Osteopetrosis, Dysosteosclerosis, Intermediate Osteopetrosis, Autosomal Recessive Osteopetrosis |
AR |
100% |
140 of 146 |
|
TGFB1 |
Camurati-Engelmann Disease, Cystic Fibrosis, Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
AD,AR |
99.75% |
24 of 24 |
|
TNFRSF11A |
Dysosteosclerosis, Juvenile Paget Disease, Autosomal Recessive Osteopetrosis, Paget Disease Of Bone, Polyostotic Osteolytic Dysplasia, Hereditary Expansile |
AD,AR |
96.37% |
17 of 22 |
|
TNFRSF11B |
Familial Calcium Pyrophosphate Deposition, Juvenile Paget Disease Of The Bone |
AR |
99.98% |
16 of 16 |
|
TNFSF11 |
Autosomal Recessive Malignant Osteopetrosis |
AR |
99.84% |
4 of 4 |
|
TRAF6 |
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia |
|
99.89% |
1 of 1 |
|
USB1 |
Dyskeratosis Congenita, Poikiloderma With Neutropenia |
AR |
100% |
24 of 24 |
* Herança: AD: Autossômico Dominante; AR: Recessivo autossômico; X: X vinculado; XLR: Recessivo vinculado a X; Mi: mitocondrial; Mu: Multifatorial; G: Herança gonossômica; D: Herança Digenic
Palagano, E., Menale, C., Sobacchi, C. et al. Genetics of Osteopetrosis. Curr Osteoporos Rep 16, 13–25 (2018). https://doi.org/10.1007/s11914-018-0415-2
Wu, C. C., Econs, M. J., DiMeglio, L. A., Insogna, K. L., Levine, M. A., Orchard, P. J., Miller, W. P., Petryk, A., Rush, E. T., Shoback, D. M., Ward, L. M., & Polgreen, L. E. (2017). Diagnosis and Management of Osteopetrosis: Consensus Guidelines From the Osteopetrosis Working Group. The Journal of clinical endocrinology and metabolism, 102(9), 3111–3123. https://doi.org/10.1210/jc.2017-01127
Stark, Z., & Savarirayan, R. (2009). Osteopetrosis. Orphanet journal of rare diseases, 4, 5. https://doi.org/10.1186/1750-1172-4-5
Del Fattore, A., Cappariello, A., & Teti, A. (2008). Genetics, pathogenesis and complications of osteopetrosis. Bone, 42(1), 19–29. https://doi.org/10.1016/j.bone.2007.08.029
Stark, Z., & Savarirayan, R. (2009). Osteopetrosis. Orphanet Journal Of Rare Diseases, 4(1). doi: 10.1186/1750-1172-4-5
Tolar, J., Teitelbaum, S., & Orchard, P. (2004). Osteopetrosis. New England Journal Of Medicine, 351(27), 2839-2849. doi: 10.1056/nejmra040952
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