Diagnostico Genético > Panel de precisión de Neuropediatría > Panel de precisión de hipereplexia

Panel de precisión de hipereplexia

La hipereplexia, también conocida como síndrome del bebé rígido o enfermedad del sobresalto, es una rara enfermedad neurológica hereditaria asociada a una variedad de mutaciones genéticas que afectan al receptor de glicina. Este trastorno se caracteriza por una tríada de rigidez generalizada durante la vigilia, mioclonías nocturnas y reflejo de sobresalto exagerado.

Descripción general

Indicaciones

Utilidad clínica

Genes y enfermedades

Metodología

Referencias

Descripción general

La hipereplexia, también conocida como síndrome del bebé rígido o enfermedad del sobresalto, es una rara enfermedad neurológica hereditaria asociada a una variedad de mutaciones genéticas que afectan al receptor de glicina. Este trastorno se caracteriza por una tríada de rigidez generalizada durante la vigilia, mioclonías nocturnas y reflejo de sobresalto exagerado. Estas características suelen aparecer al nacer junto con episodios de hipertonía o espasmos tónicos al despertar. Cuando es grave, puede interferir con la respiración y causar daño cerebral irreversible. La hipereplexia generalmente se diagnostica erróneamente como una forma de epilepsia. Se hereda principalmente como un rasgo autosómico dominante, pero también puede seguir una herencia autosómica recesiva o ligada al cromosoma X.
El panel de precisión Igenomix hipereplexia puede servir como una herramienta de diagnóstico precisa y dirigida, así como también como un diagnóstico diferencial de las convulsiones 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.

Indicaciones

El panel de precisión de Hipereplexia de Igenomix está indicado en pacientes con sospecha clínica o diagnóstico que presenten o sin las siguientes manifestaciones:
- Arqueamiento de la cabeza junto con la reacción de sobresalto
- Movimientos espasmódicos después de una reacción de sobresalto
- Facial deformities: asymmetry, flat nasal bridge, hemangioma
- Tensión muscular severa
- Falta de movimiento o más lento de lo normal
- Reflejos hiperactivos
- Apnea intermitente
- Marcha inestable

Utilidad clínica

La utilidad clínica de este panel es:

- El diagnóstico genético y molecular para un diagnóstico clínico preciso de un paciente sintomático.
- Inicio precoz del tratamiento con un equipo multidisciplinario en forma de terapia farmacológica con fármacos antiepilépticos como el clonazepam.
- Evaluación de riesgos y asesoramiento genético de familiares asintomáticos según modalidad hereditaria.
- Mejora de la delimitación de la correlación genotipo-fenotipo.

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

Ravenscroft, G., Clayton, J. S., Faiz, F., Sivadorai, P., Milnes, D., Cincotta, R., Moon, P., Kamien, B., Edwards, M., Delatycki, M., Lamont, P. J., Chan, S. H., Colley, A., Ma, A., Collins, F., Hennington, L., Zhao, T., McGillivray, G., Ghedia, S., Chao, K., … Davis, M. R. (2020). Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics. Journal of medical genetics, jmedgenet-2020-106901. Advance online publication. https://doi.org/10.1136/jmedgenet-2020-106901

Farmakidis, C., Pasnoor, M., Barohn, R. J., & Dimachkie, M. M. (2018). Congenital Myasthenic Syndromes: a Clinical and Treatment Approach. Current treatment options in neurology, 20(9), 36. https://doi.org/10.1007/s11940-018-0520-7

Rodríguez Cruz, P. M., Palace, J., & Beeson, D. (2018). The Neuromuscular Junction and Wide Heterogeneity of Congenital Myasthenic Syndromes. International journal of molecular sciences, 19(6), 1677. https://doi.org/10.3390/ijms19061677

Finsterer J. (2019). Congenital myasthenic syndromes. Orphanet journal of rare diseases, 14(1), 57. https://doi.org/10.1186/s13023-019-1025-5

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