Genomics Precision Diagnostic > Neurology Precision Panel > Alzheimer Disease Precision Panel

Panel de precisión de la enfermedad de Alzheimer

La enfermedad de Alzheimer (EA) es la causa más común de demencia y una de las principales causas de morbilidad y mortalidad en la población que envejece. La principal característica clínica de la EA es la demencia que generalmente comienza con un fallo de la memoria sutil y poco reconocido, también conocido como deterioro cognitivo leve, que poco a poco se vuelve más grave y finalmente incapacita.

Descripción general

Indicaciones

Utilidad clínica

Genes y enfermedades

Metodología

Referencias

Descripción general

La enfermedad de Alzheimer (EA) es la causa más común de demencia y una de las principales causas de morbilidad y mortalidad en la población que envejece. La principal característica clínica de la EA es la demencia que generalmente comienza con un fallo de la memoria sutil y poco reconocido, también conocido como deterioro cognitivo leve, que poco a poco se vuelve más grave y finalmente incapacita. Otros hallazgos incluyen confusión, desorientación, alteraciones del lenguaje, agitación, etc. El 95% de todos los EA son de aparición tardía, por lo general sobre la edad de 60 a 65 años, sin embargo, el 5% es de aparición temprana. Aproximadamente el 25% de toda la EA es familiar y el 75% no es familiar. Las formas familiares de EA tienen una fuerte predisposición genética. Si bien la patogenia de la EA sigue sin estar clara, todas las formas de EA parecen compartir la sobreproducción y / o la disminución del aclaramiento de los péptidos beta amiloides. Los modos de herencia de las formas familiares de EA son patrones autosómicos dominantes y recesivos.
El panel de precisión de la enfermedad de Alzheimer de Igenomix se puede utilizar como una herramienta para un diagnóstico preciso y un diagnóstico diferencial de la demencia que, en última instancia, conduce a un mejor manejo y pronóstico de la enfermedad. Proporciona un análisis completo de los genes implicados en esta enfermedad utilizando secuenciación de próxima generación (NGS) para comprender completamente el espectro de genes relevantes implicados y su penetrancia alta o intermedia.

Indicaciones

El panel de precisión de la enfermedad de Alzheimer de Igenomix se utiliza para pacientes con sospecha clínica o diagnóstico que presentan o sin los siguientes síntomas:
- Pérdida de memoria
- Antecedentes familiares de EA de inicio temprano
- Confusión sobre la ubicación de lugares familiares.
- Tardar más en realizar las tareas diarias normales
- Problemas para manejar el dinero y pagar las facturas.
- Juicio comprometido
- Pérdida de espontaneidad
- Cambios de humor y personalidad.

Utilidad clínica

La utilidad clínica de este panel es:

- La confirmación genética y molecular para un diagnóstico clínico preciso de un paciente sintomático.
- Inicio precoz del tratamiento con un equipo multidisciplinar en forma de atención médica con agentes antiparkinsonianos, antiepilépticos, antidepresivos, ansiolíticos, etc. Se recomiendan actividades mentales para potenciar el reentrenamiento cognitivo.
- Evaluación de riesgo de familiares asintomáticos según modalidad hereditaria mediante asesoramiento genético.
- Mejora de la delimitación de la correlación genotipo-fenotipo dada la variabilidad de la gravedad y el curso de la enfermedad.

Genes y enfermedades

Ver todos los genes y enfermedades

GENE	OMIM DISEASES	INHERITANCE*	% GENE COVERAGE (20X)	HGMD**
*ABCC8*	Permanent Neonatal Diabetes Mellitus With Or Without Neurologic Features, Dend Syndrome	AD,AR	99.98	710 of 712
*ACADM*	Medium Chain Acyl-CoA Dehydrogenase Deficiency	AR	99.98	181 of 181
*ACTA1*	Congenital Myopathy With Fiber-Type Disproportion, Nemaline Myopathy, Zebra Body Myopathy	AD,AR	100	224 of 224
*ADCY6*	Lethal Congenital Contracture Syndrome, Hypomyelination Neuropathy- Arthrogryposis Syndrome	AR	100	2 of 2
*ADGRG6*	Lethal Congenital Contracture Syndrome	AR	99.91	NA of NA
*AGRN*	Congential Myasthenic Syndrome	AR	99.71	18 of 18
*AIMP1*	Hypomyelinating Leukodystrophy, Autosomal Recessive Non-Syndromic Intellectual Disability	AR	100	10 of 10
*AK9*	Postsynaptic Congenital Myasthenic Syndromes	–	98.37	4 of 4
*ALG14*	Congenital Myasthenic Syndrome	AR	99.99	7 of 7
*ALG2*	Congenital Disorder Of Glycosylation Type II	AR	99.61	7 of 7
*ALG3*	Congenital Disorder Of Glycosylation Type Id	AR	99.2	25 of 25
*ASCC1*	Spinal Muscular Atrophy With Congenital Bone Fractures	AR	99.97	6 of 6
*ATAD1*	Hereditary Hyperekplexia	AR	99.97	3 of 3
*AUTS2*	Autosomal Dominant Metal Retardation, Autism Spectrum Disorder	AD	99.63	9 of 17
*BICD2*	Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy	AD	99.94	39 of 39
*BIN1*	Autosomal Recessive Centronuclear Myopathy, Autosomal Dominant Centronuclear Myopathy	AR	100	20 of 20
*C12ORF65*	Combined Oxidative Phosphorylation Deficiency, Autosomal Recessive Spastic Paraplegia	AR	na	na
*CACNA1E*	Epileptic Encephalopathy	AD	99.94	25 of 25
*CASK*	Nonspherocytic Hemolytic Anemia, Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia, Early Infantile Epileptic Encephalopathy	X,XR,XD,G	99.98	NA of NA
*CCDC47*	Trichohepatoneu- rodevelopmental Syndrome	AR	99.94	5 of 5
*CDK5*	Lissencephaly With Cerebellar Hypoplasia	AR	100	5 of 5
*CEP55*	Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly, Meckel Syndrome	AR	99.22	3 of 3
*CFL2*	Nemaline Myopathy	AR	99.98	9 of 9
*CHAT*	Congenital Myasthenic Syndrome Associated With Episodic Apnea	AR	100	49 of 49
*CHMP1A*	Pontocerebellar Hypoplasia Type 8	AR	100	4 of 4
*CHRNA1*	Multiple Pterygium Syndrome, Congenital Myasthenic Syndrome	AD,AR	100	35 of 35
*CHRNB1*	Congential Myasthenic Syndrome	AD,AR	95	9 of 9
*CHRND*	Multiple Pterygium Syndrome, Congenital Myasthenic Syndrome, Congenital	AD,AR	100	31 of 31
*CHRNE*	Familial Infantile Myasthenia, Congenital Myasthenic Syndrome	AD,AR	99.87	138 of 138
*CHRNG*	Multiple Pterygium Syndrome	AR	100	36 of 36
*CHST14*	Musculocontractural Ehlers-Danlos Syndrome	AR	97.7	21 of 22
*CHUK*	Cocoon Syndrome	AR	100	5 of 5
*CNTNAP1*	Lethal Congenital Contracture Syndrome, Congenital Hypomyelinating Neuropathy	AR	99.97	25 of 25
*COL13A1*	Congenital Myasthenic Syndrome	AR	99.97	16 of 16
*COL6A2*	Bethlem Myopathy , Congenital Myosclerosis, Ullrich Congenital Muscular Dystrophy	AD,AR	100	223 of 225
*COLQ*	Endplate Acetylcholinesterase Deficiency, Synaptic Congenital Myasthenic Syndromes	AR	100	70 of 71
*DHCR24*	Desmosterolosis	AR	100	10 of 10
*DOK7*	Fetal Akinesia Deformation Sequence, Limb-Girdle Myasthenia, Postsynaptic Congenital Myasthenic Syndromes	AR	99.88	72 of 72
*DPAGT1*	Congenital Disorder Of Glycosylation, Type Ij, Congenital Myasthenic Syndrome	AR	100	41 of 41
*DSE*	Musculocontractural Ehlers-Danlos Syndrome	AR	99.94	3 of 3
*ECEL1*	Distal Arthrogryposis Type 5d	AR	99.52	39 of 39
*EGR2*	Demyelinating Charcot- Marie-Tooth Disease Type 1d, Hypertrophic Neuropathy Of Dejerine- Sottas, Congenital Hypomyelinating Neuropathy	AD,AR	100	23 of 23
*ERBB3*	Lethal Congenital Contracture Syndrome	AD,AR	99.91	6 of 6
*ERCC1*	Cerebrooculofacioskeletal Syndrome, Cockayne Syndrome Type 2	AR	93.12	6 of 6
*ERCC2*	Cerebrooculofacioskeletal Syndrome, Xeroderma Pigmentosum Complementation Group D, Xeroderma Pigmentosum-Cockayne Syndrome Complex	AR	100	102 of 102
*ERCC5*	Cerebrooculofacioskeletal Syndrome, Xeroderma Pigmentosum Complementation Group G, Xeroderma Pigmentosum-Cockayne Syndrome Complex	AR	99.94	58 of 58
*ERCC6*	Cerebrooculofacioskeletal Syndrome, Cockayne Syndrome Type B, De Sanctis-Cacchione Syndrome Type 3	AD,AR	99.98	127 of 128
*ERGIC1*	Neurogenic Arthrogryposis Multiplex Congenita	AR	100	2 of 2
*EXOSC3*	Pontocerebellar Hypoplasia Type 1b	AR	100	19 of 20
*FAM20C*	Lethal Osteosclerotic Bone Dysplasia	AR	97.8	29 of 29
*FBN2*	Congenital Contractural Arachnodactyly	AD	100	115 of 115
*FHL1*	Reducing Body Myopathy, Scapuloperoneal Myopathy, Uruguay Faciocardiomusculoskeletal Syndrome, X-linked Emery-Dreifuss Muscular Dystrophy	X,XR,XD,G	99.98	NA of NA
*FIG4*	Amyotrophic Lateral Sclerosis, Charcot-Marie- Tooth Disease Type 4j, Cleidocranial Dysplasia With Micrognathia, Absent Thumbs, And Distal , Polymicrogyria, Bilateral Temporooccipital, Yunis-Varon Syndrome	AD,AR	99.92	72 of 72
*FKBP10*	Bruck Syndrome, Osteogenesis Imperfecta Type XI, Kuskokwim Syndrome	AR	100	51 of 51
*FKTN*	Muscular Dystrophy- Dystroglycanopathy (Congenital With Brain And Eyeanomalies), Limb-Girdle Muscular Dystrophy Type 2m, Congenital Muscular Dystrophy, Muscle-Eye- Brain Disease, Walker- Warburg Syndrome	AR	98	54 of 56
*FLAD1*	Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	AR	97.13	13 of 14
*FLVCR2*	Proliferative Vasculopathy And Hydranencephaly- Hydrocephaly Syndrome	AR	99.97	16 of 16
*GBA*	Gaucher Disease- Ophthalmoplegia- Cardiovascular Calcification Syndrome, Hereditary Late-Onset Parkinson Disease	AD,AR	100	469 of 471
*GBE1*	Glycogen Storage Disease IV, Adult Polyglucosan Body Disease	AR	99.95	71 of 74
*GCK*	Permanent Neonatal Diabetes Mellitus, Familial Hyperinsulinemic Hypoglycemia	AD,AR	100	905 of 909
*GFM2*	Combined Oxidative Phosphorylation Deficiency Type 39	AR	99.35	5 of 7
*GFPT1*	Congenital Myasthenic Syndromes With Glycosylation Defect	AR	100	57 of 57
*GLDN*	Lethal Congenital Contracture Syndrome	AR	98.46	13 of 13
*GLE1*	Congenital Arthrogryposis With Anterior Horn Cell Disease, Lethal Congenital Contracture Syndrome, Amyotrophic Lateral Sclerosis	AR	100	17 of 17
*GLI3*	Greig Cephalopolysyndactyly Syndrome, Congenital Hypothalamic Hamartoma Syndrome, Pallister-Hall Syndrome, Postaxial and Preaxial Polydactyly, Acrocallosal Syndrome	AD,AR	100	231 of 231
*GMPPB*	Muscular Dystrophy- Dystroglycanopathy (Congenital With Brain And Eyeanomalies), Congential Muscular Dystrophy With Cerebellar Involvement, Congenital Myasthenic Syndromes With Glycosylation Defect, Muscle-Eye- Brain Disease	AR	99.95	53 of 53
*HSPG2*	Dyssegmental Dysplasia, Silverman-Handmaker Type, Schwartz-Jampel Syndrome	AR	99.41	68 of 69
*HYMAI*	Paternal Uniparental Disomy Of Chromosome 6, Transient Neonatal Diabetes Mellitus	AD	na	na
*IBA57*	Multiple Mitochondrial Dysfunctions Syndrome, Autosomal Recessive Spastic Paraplegia	AR	93.35	25 of 27
*INS*	Permanent Neonatal Diabetes Mellitus, Hyperproinsulinemia	AD,AR	100	78 of 84
*ITGA6*	Epidermolysis Bullosa Junctionalis With Pyloric Atresia, Junctional Epidermolysis Bullosa- Pyloric Atresia Syndrome	AR	100	10 of 10
*ITGB4*	Epidermolysis Bullosa Junctionalis With Pyloric Atresia, Epidermolysis Bullosa Simplex Weber- Cockayne Type, Aplasia Cutis Congenita	AD,AR	99.12	115 of 115
*KAT6B*	Genitopatellar Syndrome, Ohdo Syndrome, Blepharophimosis-Intellectual Disability Syndrome	AD	99.97	80 of 80
*KBTBD13*	Childhood-Onset Nemaline Myopathy	AD	99.66	15 of 15
*KCNJ11*	Permanent Neonatal Diabetes Mellitus With Or Without Neurologic Features, Hyperinsulinemic Hypoglycemia, Dend Syndrome	AD,AR	100	190 of 191
*KIAA1109*	Alkuraya-Kucinskas Syndrome	AR	99.95	21 of 21
*KIF14*	Meckel Syndrome, Autosomal Recessive Primary Microcephaly	AR	99.84	18 of 18
*KIF1A*	Autosomal Dominant Mental Retardation Neuropathy, Hereditary Sensory And Autonomic Type II, Autosomal Spastic Paraplegia Type 30, Peho Syndrome	AD,AR	100	76 of 76
*KIF5C*	Cortical Dysplasia, Complex, With Other Brain Malformations	AD	99.96	7 of 7
*KLHL40*	Severe Congenital Nemaline Myopathy	AR	99.98	26 of 26
*KLHL41*	Childhood-Onset Nemaline Myopathy	AR	99.92	8 of 8
*LAMB2*	Pierson Syndrome , Synaptic Congenital Myasthenic Syndromes	AR	100	129 of 129
*LGI4*	Arthrogryposis Multiplex Congenita, Neurogenic, With Myelin Defect , Hypomyelination Neuropathy- Arthrogryposis Syndrome	AR	99.86	9 of 9
*LMNA*	Charcot-Marie-Tooth Disease Axonal Type 2b1 , Emery- Dreifuss Muscular Dystrophy , Heart-Hand Syndrome, Hutchinson-Gilford Progeria Syndrome, Familial Partial Lipodystrophy Type 2, Malouf Syndrome, Mandibuloacral Dysplasia, Congenital Muscular Dystrophy, Atypical Werner Syndrome	AD,AR	100	619 of 620
*LMOD3*	Severe Congenital Nemaline Myopathy	AR	98.68	23 of 26
*LRP4*	Cenani-Lenz Syndactyly Syndrome, Congenital Myasthenic Syndrome, Sclerosteosis, Cenani-Lenz Syndrome	AD,AR	100	32 of 32
*MAGEL2*	Prader-Willi Syndrome	AD	99.99	43 of 48
*MED13L*	Mental Retardation And Distinctive Facial Features With Or Without Cardiac Defects, Developmental Delay-Facial Dysmorphism Syndrome	AD	100	90 of 92
*MPZ*	Axonal Type Charcot-Marie- Tooth Disease, Demyelinating Type Charcot-Marie-Tooth Disease, Hypertrophic Neuropathy Of Dejerine- Sottas, Congenital Hypomyelinating Neuropathy, Roussy-Levy Hereditary Areflexic Dystasia, Charcot-Marie-Tooth Disease Type 1b, Roussy-Levy Syndrome	AD,AR	99.98	245 of 245
*MTM1*	Myotubular Myopathy, X-linked Centronuclear Myopathy , X-linked Myotubular Myopathy- Abnormal Genitalia Syndrome	X,XR,G	99.98	NA of NA
*MUSK*	Fetal Akinesia Deformation Sequence, Congenital Myasthenic Syndrome	AR	95.58	23 of 25
*MYBPC1*	Distal Arthrogryposis Type 1b, Lethal Congenital Contracture Syndrome, Congenital Myopathy With Tremor, Digitotalar Dysmorphism	AD,AR	100	13 of 13
*MYH2*	Proximal Myopathy And Ophthalmoplegia	AD,AR	99.98	31 of 31
*MYH3*	Distal Arthrogryposis, Contractures, Pterygia, And Spondylocarpostarsal Fusion Syndrome, Autosomal Recessive Multiple Pterygium Syndrome, Digitotalar Dysmorphism, Freeman-Sheldon Syndrome, Sheldon-Hall Syndrome	AD,AR	100	46 of 47
*MYH8*	Carney Complex Variant, Trismus- Pseudocamptodactyly Syndrome	AD	100	6 of 6
*MYO9A*	Congenital Myasthenic Syndrome	AR	99.62	7 of 7
*MYOD1*	Congenital Myopathy With Diaphragmatic Defects, Respiratory Insufficiency , And Dysmorphic Facies , Fetal Akinesia Deformation Sequence	AR	99.97	6 of 6
*MYPN*	Nemaline Myopathy, Childhood-Onset Nemaline Myopathy	AD,AR	99.94	49 of 49
*NALCN*	Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay, Digitotalar Dysmorphism, Freeman-Sheldon Syndrome, Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome, Sheldon-Hall Syndrome	AD,AR	99.97	69 of 69
*NEB*	Nemaline Myopathy, Childhood-Onset Nemaline Myopathy, Distal Nebulin Myopathy	AR	86.77	304 of 339
*NEK9*	Arthrogryposis, Perthes Disease, And Upward Gaze Palsy, Lethal Congenital Contracture Syndrome	AR	99.98	4 of 4
*NUP88*	Fetal Akinesia Deformation Sequence	AR	95.82	3 of 3
*PDX1*	Pancreatic Permanent Neonatal Diabetes Mellitus	AD,AR	98.02	32 of 36
*PHGDH*	Neu-Laxova Syndrome, Phosphoglycerate Dehydrogenase Deficiency	AR	100	26 of 26
*PI4KA*	Polymicrogyria, Perisylvian, With Cerebellar Hypoplasia And Arthrogryposis	AR	99.76	4 of 4
*PIEZO2*	Distal Arthrogryposis, Gordon Syndrome, Marden-Walker Syndrome, Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome	AD,AR	96.93	37 of 37
*PIGS*	Glycosylphosphatidylinositol Biosynthesis Defect	AR	100	6 of 6
*PIP5K1C*	Lethal Congenital Contracture Syndrome	AR	99.83	3 of 3
*PLAGL1*	Paternal Uniparental Disomy Of Chromosome 6, Transient Neonatal Diabetes Mellitus	–	95.56	2 of 2
*PLEC*	Epidermolysis Bullosa Junctionalis With Pyloric Atresia, Epidermolysis Bullosa Simplex	AD,AR	99.98	113 of 113
*PLOD2*	Bruck Syndrome	AR	99.97	29 of 29
*PLXND1*	Moebius Syndrome	–	98.44	6 of 6
*PMM2*	Congenital Disorder Of Glycosylation Type Ia	AR	100	127 of 129
*PPP3CA*	Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual , Undetermined Early-Onset Epileptic Encephalopathy	AD	99.98	16 of 16
*PREPL*	Congenital Myasthenic Syndrome, 2p21 Microdeletion Syndrome, Hypotonia-Cystinuria Syndrome	AR	99.92	7 of 12
*PSAT1*	Neu-Laxova Syndrome, Phosphoserine Aminotransferase Deficiency	AR	99.95	9 of 9
*PSMB8*	Proteasome-Associated Autoinflammatory Syndrome 1 And Digenic Forms	AR	100	11 of 11
*RAPSN*	Fetal Akinesia Deformation Sequence, Congenital Myasthenic Syndrome	AR	99.98	59 of 61
*RARS2*	Pontocerebellar Hypoplasia Type 6	AR	99.98	39 of 40
*REV3L*	Moebius Syndrome		99.08	7 of 7
*RFT1*	Congenital Disorder Of Glycosylation Type In	AR	99.98	18 of 18
*RIPK4*	Popliteal Pterygium Syndrome Lethal Type, Bartsocas-Papas Syndrome, Chand Syndrome	AR	99.98	16 of 16
*RYR1*	Central Core Disease Of Muscle, Minicore Myopathy With External Ophthalmoplegia , Myopathy, Congenital, With Fiber-Type Disproportion, Centronuclear Myopathy, Congenital Multicore Myopathy With External Ophthalmoplegia, Congenital Myopathy With Myasthenic-Like Onset	AD,AR	97.63	733 of 746
*SCN4A*	Congenital Myasthenic Syndrome, Paramyotonia Congenita Of Von Eulenburg	AD,AR	99.77	136 of 142
*SCO2*	Autosomal Recessive Axonal Charcot-Marie- Tooth Disease Due To Copper Metabolism Defect, Leigh Syndrome With Cardiomyopathy	AD,AR	100	38 of 38
*SELENON*	Congoenital Myopathy With Fiber-Type Disproportion, Rigid Spine Muscular Dystrophy, Classic Multiminicore Myopathy	AD,AR	89	NA of NA
*SHPK*	Isolated Sedoheptulokinase Deficiency	–	99.96	2 of 2
*SLC18A3*	Congenital Myasthenic Syndrome, Fetal Akinesia Deformation Sequence	AR	99.97	5 of 5
*SLC25A1*	Congenital Myasthenic Syndrome	AR	90	23 of 25
*SLC35A3*	Arthrogryposis, Mental Retardation, And Seizures, Autism Spectrum Disorder- Epilepsy-Arthrogryposis Syndrome	AR	99.94	5 of 5
*SLC5A7*	Congenital Myasthenic Syndrome, Distal Neuronopathy Hereditary Motor Type VIIa	AD,AR	99.92	21 of 21
*SLC6A9*	Glycine Encephalopathy With Normal Serum Glycine	AR	99.99	5 of 5
*SLC9A6*	Christianson Syndrome	X,XD,G	98.87	NA of NA
*SMN1*	Spinal Muscular Atrophy	AR	5.2	17 of 91
*SMN2*	Spinal Muscular Atrophy	AR	7.6	0 of 3
*SNAP25*	Congenital Myasthenic Syndromes	AD	100	6 of 6
*SOX10*	Peripheral Demyelinating Neuropathy, Waardenburg Syndrome	AD	99.74	139 of 147
*STAC3*	Native American Myopathy	AR	99.98	5 of 5
*STAT3*	Multisystem Autoimmune Disease, Permanent Neonatal Diabetes Mellitus	AD	100	171 of 171
*STIM1*	Immune Dysfunction With T-Cell Inactivation Due To Calcium Entry Defect, Myopathy, Tubular Aggregate, Stormorken Syndrome Stormorken-Sjaastad- Langslet Syndrome, Tubular Aggregate Myopathy	AD,AR	100	28 of 28
*SYNE1*	Arthrogryposis Multiplex Congenita, Emery-Dreifuss Muscular Dystrophy, Autosomal Recessive Ataxia	AD,AR	99.99	193 of 193
*SYT2*	Congenital Myasthenic Syndrome With Or Without Motorneuropathy	AD	99.98	4 of 4
*TBCD*	Progressive Encephalopathy, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	AR	94.89	28 of 28
*TGFB3*	Loeys-Dietz Syndrome, Familial Thoracic Aortic Aneurysm And Aortic Dissection	AD	100	34 of 35
*TK2*	External Ophthalmoplegia With Mitochondrial DNA Deletions	AR	97.08	64 of 65
*TNNI2*	Distal Arthrogryposis Type 2b, Digitotalar Dysmorphism, Sheldon-Hall Syndrome	AD	100	11 of 11
*TNNT1*	Nemaline Myopathy	AR	89.94	7 of 8
*TNNT3*	Distal Arthrogryposis Digitotalar Dysmorphism, Sheldon-Hall Syndrome	AD	99.98	5 of 5
*TPM2*	Distal Arthrogryposis, Congenital Myopathy With Fiber-type Disproportion, Nemaline Myopathy, Cap Myopathy, Digitotalar Dysmorphism, Sheldon-Hall Syndrome	AD,AR	100	41 of 41
*TPM3*	Congenital Myopathy With Fiber-Type Disproportion, Nemaline Myopathy, Cap Myopathy	AD,AR	100	27 of 27
*TRIP4*	Congenital Muscular Dystrophy, Spinal Muscular Atrophy With Congenital Bone Fractures, Congenital Muscular Dystrophy-Respiratory- Skin Abnormalities- Joint Hyperlaxity Syndrome	AR	99.92	3 of 3
*TRPV4*	Brachyrachia, Familial Digital Arthropathy- Brachydactyly, Hereditary Motor And Sensory Neuropathy, Metatropic Dysplasia, Parastremmatic Dwarfism, Scapuloperoneal Spinal Muscular Atrophy, Spondylometaphyseal Dysplasia	AD	100	88 of 88
*TSEN2*	Pontocerebellar Hypoplasia	AR	95.47	4 of 5
*TSEN54*	Fatal Infantile Encephalopathy With Olivopontocerebellar Hypoplasia	AR	96.94	20 of 22
*UBA1*	Infantile-Onset X- linked Spinal Muscular Atrophy	X,XR,G	99.58	NA of NA
*VAMP1*	Spastic Ataxia, Congenital Myasthenic Syndrome	AD,AR	99.51	8 of 8
*VIPAS39*	Arthrogryposis, Renal Dysfunction, And Cholestasis	AR	100	15 of 15
*VPS33B*	Arthrogryposis, Renal Dysfunction, And Cholestasis	AR	100	62 of 62
*VRK1*	Pontocerebellar Hypoplasia	AR	99.64	15 of 15
*YY1*	Gabriele-de Vries Syndrome	AD	99.89	13 of 13
*ZBTB42*	Lethal Congenital Contracture Syndrome	AR	99.81	1 of 1
*ZC4H2*	Wieacker-Wolff Syndrome, Intellectual Disability- Developmental Delay-Contractures Syndrome	X,XR,XD,G	99.69	NA of NA
*ZFP57*	Transient Neonatal Diabetes Mellitus	AD	100	15 of 15
*ZMPSTE24*	Mandibuloacral Dysplasia With Type B Lipodystrophy, Hutchinson- Gilford Progeria Syndrome	AR	100	35 of 36
*ZNF335*	Primary Autosomal Recessive Microcephaly, Microcephalic Primordial Dwarfism	AR	99.83	20 of 20
*ZNHIT3*	Peho Syndrome	AR	73.96	1 of 1

* 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

Metodología

Referencias

Ver referencias científicas

Niles, K. M., Blaser, S., Shannon, P., & Chitayat, D. (2019). Fetal arthrogryposis multiplex congenita/fetal akinesia deformation sequence (FADS)-Aetiology, diagnosis, and management. Prenatal diagnosis, 39(9), 720–731. https://doi.org/10.1002/pd.5505

Bamshad, M., Van Heest, A. E., & Pleasure, D. (2009). Arthrogryposis: A review and update. Journal of Bone and Joint Surgery, 91(Supplement_4), 40-46. doi:10.2106/jbjs.i.00281

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