Genomics Precision Diagnostic > Neurology Precision Panel > Rett Syndrome Precision Panel

Panel de precisión del síndrome de Rett

El síndrome de Rett (RTT) es un trastorno del neurodesarrollo que ocurre predominantemente en mujeres y tiene un curso degenerativo progresivo que resulta en discapacidades cognitivas y físicas. La presentación es clínicamente heterogénea y va desde la dificultad para caminar hasta la atrofia, distonía, escoliosis y deterioro intelectual.

Descripción general

Indicaciones

Utilidad clínica

Genes y enfermedades

Metodología

Referencias

Descripción general

El síndrome de Rett (RTT) es un trastorno del neurodesarrollo que ocurre predominantemente en mujeres y tiene un curso degenerativo progresivo que resulta en discapacidades cognitivas y físicas. La presentación es clínicamente heterogénea y va desde la dificultad para caminar hasta la atrofia, distonía, escoliosis y deterioro intelectual. El sello distintivo del síndrome de Rett son los movimientos repetitivos casi constantes de las manos. Es una de las causas más frecuentes de discapacidad intelectual en las mujeres. El potencial de desarrollo de los pacientes con síndrome de Rett es variable y difícil de predecir, algunos individuos logran habilidades funcionales.
El panel de precisión del síndrome de Rett de Igenomix puede servir como una herramienta de diagnóstico precisa y dirigida, así como un diagnóstico diferencial de la discapacidad intelectual que, en última instancia, 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.

Indicaciones

El panel de precisión del síndrome de Igenomix Rett está indicado en pacientes con sospecha clínica o diagnóstico de con o sin las siguientes manifestaciones:
- Retraso del desarrollo motor grueso
- Pérdida de contacto visual
- Desaceleración del crecimiento de peso y altura
- Desaceleración del crecimiento de la cabeza
- Hipotonía
- Colgar escurriendo
- Problemas respiratorios
- Trastornos del sueño
- Convulsiones

Utilidad clínica

La utilidad clínica de este panel es:

- El diagnóstico genético y molecular para un diagnóstico clínico preciso de un paciente sintomático. Mejorar los criterios diagnósticos, los estudios de historia natural y las nuevas opciones terapéuticas.
- Inicio temprano del tratamiento con un equipo multidisciplinario en forma de atención médica para la prevención de convulsiones, distonía así como fisioterapia y logopedia.
- 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**
*ADSL*	Adenylosuccinase Deficiency	AR	100	59 of 59
*ALDH5A1*	Succinic Semialdehyde Dehydrogenase Deficiency	AR	95.41	65 of 69
*ATP1A3*	Alternating Hemiplegia Of Childhood, Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss, Rapid-Onset Dystonia- Parkinsonism	AD	99.94	138 of 138
*ATRX*	Alpha- thalassemia/Mental Retardation Syndrome, Mental Retardation- Hypotonic Facies Syndrome, Carpenter- Waziri Syndrome, Chudley– Lowry-Hoar Syndrome, Holmes-Gang Syndrome, Juberg-Marsidi Syndrome, Smith-Fineman- Myers Syndrome	X,XR,XD,G	98.5	NA of NA
*CACNA1A*	Early Infantile Epileptic Encephalopathy, Episodic Ataxia Type 2, Spinocerebellar Ataxia, Benign Paroxysmal Torticollis Of Infancy, Familial Or Sporadic Hemiplegic Migraine	AD	96.13	249 of 266
*CASK*	X-linked Mental Retardation With Or Without Nystagmus, Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia, Early Infantile Epileptic Encephalopathy	X,XR,XD,G	99.98	NA of NA
*CDKL5*	Early Infantile Epileptic Encephalopathy, Atypical Rett Syndrome, West Syndrome	X,XD,G	99.92	NA of NA
*CHD2*	Childhood-Onset Epileptic Encephalopathy, Lennox-Gastaut Syndrome, Myoclonic-Astastic Epilepsy	AD	98.91	103 of 103
*CHRNA2*	Epilepsy, Nocturnal Frontal Lobe	AD	99.91	8 of 8
*CHRNA4*	Epilepsy, Nocturnal Frontal Lobe	AD	99.8	24 of 24
*CHRNA7*	15q13.3 Microdeletion Syndrome	AD	82.09	2 of 2
*CHRNB2*	Epilepsy, Nocturnal Frontal Lobe	AD	100	13 of 13
*CLCN4*	X-linked Intellectual Disability Syndrome	X,XR,XD,G	99.69	NA of NA
*CLN3*	Neuronal Ceroid Lipofuscinosis	AR	99.93	73 of 75
*CLN5*	Neuronal Ceroid Lipofuscinosis	AR	99.56	52 of 55
*CLN6*	Neuronal Ceroid Lipofuscinosis	AR	99.94	98 of 99
*CLN8*	Neuronal Ceroid Lipofuscinosis, Progressive Epilepsy- Intellectual Disability Syndrome	AR	100	44 of 45
*CNTNAP2*	Pitt-Hopkins-like Syndrome	AR	99.91	39 of 41
*CSTB*	Myoclonic Epilepsy Of Unverricht And Lundborg, Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	AR	100	14 of 14
*CTSD*	Neuronal Ceroid Lipofuscinosis	AR	100	18 of 18
*DDX3X*	X-linked Intellectual Disability- Hypotonia-Movement Disorder Syndrome	X,XR,XD,G	99.03	NA of NA
*DEPDC5*	Familial Focal Epilepsy	AD	100	127 of 127
*DYRK1A*	Intellectual Disability Syndrome	AD	99.85	78 of 81
*EEF1A2*	Early Infantile Epileptic Encephalopathy, Undetermined Early-Onset Epileptic Encephalopathy	AD	100	14 of 14
*EHMT1*	Kleefstra Syndrome	AD	98.58	58 of 75
*EPM2A*	Myoclonic Epilepsy Of Lafora	AR	89.2	63 of 70
*FOLR1*	Neurodegeneration Due To Cerebral Folate Transport Deficiency	AR	100	19 of 23
*FOXG1*	Rett Syndrome, 14q12 Microdeletion Syndrome, Foxg1 Syndrome	AD	88.71	93 of 109
*GABBR2*	Early Infantile Epileptic Encephalopathy, Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills, Atypical Rett Syndrome	AD	95.98	7 of 7
*GABRA1*	Early Infantile Epileptic Encephalopathy, Childhood Absence Epilepsy, Dravet Syndrome, Juvenile Myoclonic Epilepsy	AD	100	45 of 46
*GABRB2*	Early Infantile Epileptic Encephalopathy	AD	99.19	16 of 19
*GABRB3*	Early Infantile Epileptic Encephalopathy, Childhood Absence Epilepsy, Lennox-Gastaut Syndrome	AD	100	54 of 62
*GABRG2*	Early Epilepsy, Childhood Absence, 2 , Epileptic Encephalopathy, Early Infantile, 74; Eiee74 , Childhood Absence Epilepsy , Dravet Syndrome , Generalized Epilepsy With Febrile Seizures-plus , Rolandic Epilepsy , Undetermined Early-onset Epileptic Encephalopathy	AD	99.67	53 of 53
*GAMT*	Cerebral Creatine Deficiency Syndrome, Guanidinoacetate Methyltransferase Deficiency	AR	99.92	60 of 60
*GATM*	Cerebral Creatine Deficiency Syndrome, Fanconi Renotubular Syndrome	AD,AR	99.98	21 of 21
*GNAO1*	Early Infantile Epileptic Encephalopathy, Neurodevelopmental Disorder With Involuntary Movements	AD	100	47 of 47
*GOSR2*	Progressive Myoclonic Epilepsy	AR	88.39	6 of 6
*GRIN1*	Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures	AD,AR	100	43 of 43
*GRIN2A*	Focal Epilepsy, With Speech Disorder And With Or Without Mental Retardation, Rolandic Epilepsy-Speech Dyspraxia Syndrome	AD	100	143 of 143
*HDC*	Gilles De La Tourette Syndrome	AD	100	4 of 4
*IQSEC2*	X-linked Mental Retardation, Microduplication Xp11.22p11.23 Syndrome, Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome, Smith-Magenis Syndrome	X,XR,XD,G	99.73	NA of NA
*KANSL1*	Koolen-de Vries Syndrome	AD	96.03	22 of 27
*KCNA2*	Early Infantile Epileptic Encephalopathy	AD	99.86	23 of 23
*KCNC1*	Progressive Myoclonic Epilepsy	AD	99.87	10 of 10
*KCNMA1*	Cerebellar Atrophy, Developmental Delay, And Seizures, Epilepsy, Generalized Epilepsy And Paroxysmal Dyskinesia, Liang-Wang Syndrome	AD,AR	99.98	24 of 26
*KCNT1*	Nocturnal Frontal Lobe Epilepsy, Early Infantile Epileptic Encephalopathy	AD	95.98	64 of 64
*KCTD7*	Progressive Myoclonic Epilepsy With Or Without Intracellular Inclusions	AR	99.99	40 of 40
*KDM6A*	Kabuki Syndrome	AD,X,XD,G	99.98	NA of NA
*LAMA1*	Poretti-Boltshauser Syndrome, Ataxia-Intellectual Disability- Oculomotor Apraxia- Cerebellar Cysts Syndrome	AR	100	43 of 43
*LGI1*	Autosomal Dominant Lateral Temporal Lobe Epilepsy	AD	99.94	54 of 54
*MAGI2*	Nephrotic Syndrome	AR	93.82	7 of 9
*MBD5*	Autosomal Dominant Mental Retardation, 2q23.1 Microdeletion Syndrome	AD	99.99	33 of 35
*MECP2*	X-linked Autism, Severe Neonatal Encephalopathy, Lubs X-linked Mental Retardation Syndrome, Rett Syndrome, Atypical Rett Syndrome	X,XR,XD,MU,G	99.81	NA of NA
*MEF2C*	Mental Retardation, Stereotypic Movements, Epilepsy, And/Or Cerebralmalformations, 5q14.3 Microdeletion Syndrome	AD	99.91	43 of 46
*MFSD8*	Neuronal Ceroid Lipofuscinosis, Macular Dystrophy With Central Cone Involvement	AR	100	63 of 63
*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
*NEXMIF*	X-linked Mental Retardation	X,XR,XD,G	99.74	NA of NA
*NGLY1*	Congenital Disorder Of Glycosylation Type IV, Alacrimia-Choreoathetosis- Liver Dysfunction Syndrome	AR	99.8	28 of 28
*NHLRC1*	Myoclonic Epilepsy Of Lafora	AR	100	71 of 71
*NPRL3*	Familial Focal Epilepsy With Variable Foci	AD	99.61	18 of 18
*NRXN1*	Pitt-Hopkins-like Syndrome	AR	97.42	33 of 74
*NTNG1*	Atypical Rett Syndrome, Non-Specific Syndromic Intellectual Disability		99.96	2 of 2
*OCLN*	Pseudo-Torch Syndrome, Congenital Intrauterine Infection-like Syndrome	AR	86.89	15 of 17
*PACS1*	Autosomal Dominant Mental Retardation, Intellectual Disability- Craniofacial Dysmorphism- Cryptorchidism Syndrome	AD	97.98	3 of 3
*PCDH19*	Epilepsy, Female-Restricted, With Mental Retardation, Dravet Syndrome	X,G	99.99	NA of NA
*PIGN*	Multiple Congenital Anomalies- Hypotonia-Seizures Syndrome, Fryns Syndrome	AR	93.97	36 of 39
*PNKP*	Ataxia-Oculomotor Apraxia, Charcot-Marie-Tooth Disease, Axonal, Type 2b2, Early Infantile Epileptic Encephalopathy, Early Infantile Epileptic Encephalopathy	AR	100	36 of 36
*POLG*	Mitochondrial DNA Depletion Syndrome, Progressive External Ophthalmoplegia With Mitochondrial DNA Deletions, Alpers-Huttenlocher Syndrome, Progressive External Ophthalmoplegia, Sensory Ataxic Neuropathy-Dysarthria- Ophthalmoparesis Syndrome	AD,AR	99.92	325 of 326
*PPP2R5D*	Autosomal Dominant Mental Retardation, Intellectual Disability-Macrocephaly- Hypotonia-Behavioral Abnormalities Syndrome	AD	100	11 of 11
*PPT1*	Neuronal Ceroid Lipofuscinosis	AR	100	81 of 81
*PURA*	Autosomal Dominant Mental Retardation	AD	85.36	59 of 65
*SCN1A*	Early Infantile Epileptic Encephalopathy, Familial Febrile Convulsions, Dravet Syndrome, Familial Or Sporadic Hemiplegic Migraine, Lennox-Gastaut Syndrome	AD	99.8	1776 of 1797
*SCN1B*	Early Infantile Epileptic Encephalopathy, Generalized Epilepsy With Febrile Seizures Plus, Dravet Syndrome	AD,AR	99.67	46 of 48
*SCN2A*	Early Infantile Epileptic Encephalopathy, Episodic Ataxia, Seizures, Benign Familial Neonatal-Infantile, Dravet Syndrome, West Syndrome	AD	100	351 of 351
*SLC19A3*	Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Diseas Syndrome, Leigh Syndrome With Leukodystrophy	AR	100	38 of 39
*SLC2A1*	Episodic Epilepsy Choreoathetosis/Spasticity, Glut1 Deficiency Syndrome, Stomatin-Deficient Cryohydrocytosis With Neurologic Defects, Childhood Absence Epilepsy, Paroxysmal Exertion-Induced Dyskinesia	AD,AR	99.99	301 of 304
*SLC6A1*	Myoclonic-Astastic Epilepsy	AD	100	55 of 55
*SLC6A8*	X-linked Creatine Transporter Deficiency	X,XR,G	99.87	NA of NA
*SLC9A6*	X-linked Mental Retardation , Christianson Syndrome	X,XD,G	98.87	NA of NA
*SLITRK1*	Gilles De La Tourette Syndrome	AD,MU	100	10 of 12
*SMC1A*	Cornelia De Lange Syndrome, Semilobar Holoprosencephaly, Wiedemann-Steiner Syndrome	X,XR,XD,G	100	NA of NA
*SPATA5*	Epilepsy, Hearing Loss, And Mental Retardation Syndrome, Microcephaly- Intellectual Disability- Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	AR	99.83	30 of 30
*STX1B*	Generalized Epilepsy With Febrile Seizures Plus	AD	100	24 of 24
*STXBP1*	Early Infantile Epileptic Encephalopathy, Atypical Rett Syndrome, Dravet Syndrome, West Syndrome	AD	100	209 of 215
*SYNGAP1*	Autosomal Dominant Mental Retardation, Syngap1-Related Developmental And Epileptic Encephalopathy	AD	99.46	168 of 171
*TBC1D24*	Autosomal Dominant Deafness, Autosomal Recessive Deafness, Doors Syndrome, Rolandic Epilepsy With Paroxysmal Exercise-Induced Dystonia And Writer’s Cramp, Early Infantile Epileptic Encephalopathy, Familial Infantile Myoclonic Epilepsy, Progressive Myoclonic Epilepsy With Dystonia	AD,AR	100	80 of 80
*TCF4*	Fuchs Endothelial Corneal Dystrophy, Pitt-Hopkins Syndrome, Primary Sclerosing Cholangitis	AD	98.91	124 of 124
*TPP1*	Neuronal Ceroid Lipofuscinosis, Spinocerebellar Ataxia	AR	100	147 of 147
*UBE3A*	Angelman Syndrome	AD	99.98	208 of 211
*WDR45*	Neurodegeneration With Brain Iron Accumulation, West Syndrome	X,XD,G	100	NA of NA
*ZEB2*	Mowat-Wilson Syndrome	AD	98.95	253 of 254

* 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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