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Klinische FragestellungMentale Retardierung bei kortikaler Dysplasie, Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Mentale Retardierung bei kortikaler Dysplasie mit 10 "core candidate"-Genen bzw. zusammen genommen >100 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
MP7898
Anzahl Gene
17 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
33,8 kb (Core-/Core-canditate-Gene)
52,9 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

[Sanger]

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GReferenz-Seq.Erbgang
APC26912NM_005883.3AR
CNTNAP23996NM_014141.6AR
CTNNA22583NM_001164883.2AR
KIF2A2235NM_001098511.3AD
KIF5C2874NM_004522.3AD
MTOR7650NM_004958.4AD
TSC13495NM_000368.5AD
TUBB1335NM_178014.4AD
TUBB2A1338NM_001069.3AD
TUBG11356NM_001070.5AD
DEPDC54812NM_001242896.3AD
LAMC34728NM_006059.4AR
TMX2899NM_015959.4AR
TUBA1A1356NM_006009.4AD
TUBB2B1338NM_178012.5AD
TUBB31353NM_006086.4AD
WDR624572NM_001083961.2AR

Infos zur Erkrankung

Klinischer Kommentar

Mentale Retardierung (aktuell akzeptierter englischer Begriff, „intellectual deficits“) ist ein lebenslang schwächender Zustand, von dem bis zu 2-3% der Bevölkerung in westlichen Ländern betroffen sind. Während die kausale Pathogenese extrem unterschiedlich ist, stellen bei >50% der Patienten genetische Ätiologien die häufigste Ursache dar. Dieser Prozentsatz nimmt durch ausgeweitete Anwendung effizienter NGS-Technologien zu. Hirnfehlbildungen verursachen nicht wenige Fälle von intellektuellen Defiziten und umfassen eine Gruppe von genetischen Entwicklungsstörungen, die in der Kindheit neben anderen neurologischen Merkmalen auftreten. In einigen Fällen entstehen Fehlbildungen des Kortex durch de novo oder somatische Mutationsereignisse im Gameten- oder Postzygoten-Stadium, einige der Hirnfehlbildungen sind vererbt. Insbesondere werden hier Genmutationen für mentale Retardierung bei kortikaler Dysplasie angeführt sowie deren Differentialdiagnostik. Ebensolche für mentale Retardierung speziell bei Lissenzephalie werden separat behandelt. Dabei werden autosomal dominante, selten rezessive Erbgänge bebeschrieben. Die DNA-diagnostische Ausbeute ist derzeit nicht sicher anzugeben. Die klinische Diagnose kann durch ein negatives molekulargenetisches Ergebnis keinesfalls ausgeschlossen werden.

Referenzen: https://www.ncbi.nlm.nih.gov/books/NBK350554/

 

Synonyme
  • Alias: Intellectual disability, cortical dysplasia
  • Alias: Psycho-motor retardation, cortical dysplasia
  • Allelic: Autism susceptibility 15 (CNTNAP2)
  • Allelic: Cowden syndrome 5 (PIK3CA)
  • Allelic: Deafness, AD 20 + 26 (ACTG1)
  • Allelic: Deafness, AD 83 (MAP1B)
  • Allelic: Dystonia 4, torsion, AD (TUBB4A)
  • Allelic: Dystonia, juvenile-onset (ACTB)
  • Allelic: FG syndrome 4 (CASK)
  • Allelic: Fibrosis of extraocular muscles, congenital, 3A (TUBB3)
  • Allelic: Heimler syndrome 1 [Peroxisome biogenesis disorder 1C] (PEX1)
  • Allelic: Heimler syndrome 2 [Peroxisome biogenesis disorder 4C] (PEX6)
  • Allelic: Hydranencephaly with abnormal genitalia (ARX)
  • Allelic: Lymphangioleiomyomatosis (TSC1)
  • Allelic: Lymphangioleiomyomatosis, somatic (TSC2)
  • Allelic: Microhydranencephaly (NDE1)
  • Allelic: Muscular dystrophy, limb-girdle, AR 23 (LAMA2)
  • Allelic: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 (POMT1)
  • Allelic: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 (POMT2)
  • Allelic: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 (POMGNT1)
  • Allelic: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 (FKTN)
  • Allelic: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 (FKRP)
  • Allelic: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 (CRPPA)
  • Allelic: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 (POMGNT2)
  • Allelic: Muscular dystrophy-dystroglycanopathy, limb-girdle, type C, 9 (DAG1)
  • Allelic: Pitt-Hopkins like syndrome 1 (CNTNAP2)
  • Allelic: Rhizomelic chondrodysplasia punctata, type 1 (PEX7)
  • Allelic: Rhizomelic chondrodysplasia punctata, type 5 (PEX5)
  • Allelic: Sotos syndrome 3 (APC2)
  • Allelic: Symmetric circumferential skin creases, congenital, 1 (TUBB)
  • Agenesis of corpus callosum, cardiac, ocular + genital syndrome (CDH2)
  • Alias: ID bei Cortex-Malformation
  • Allelic: Cowden syndrome 1 (PTEN)
  • Allelic: Epilepsy, familial temporal lobe, 7 (RELN)
  • Allelic: Gastrointestinal defects + immunodeficiency syndrome 2 (PI4KA)
  • Allelic: Mitral valve prolapse 2 (DCHS1)
  • Alternating hemiplegia of childhood 2 (ATP1A3)
  • Band heterotopia (EML1)
  • Baraitser-Winter syndrome 1 (ACTB)
  • Baraitser-Winter syndrome 2 (ACTG1)
  • Bryant-Li-Bhoj neurodevelopmental syndrome 1 (H3-3A)
  • CAPOS syndrome (ATP1A3)
  • CEBALID [craniofacial def., dysmorphic ears, brain abnormalities, language delay, ID] syndrome (MN1)
  • Cerebellar hypoplasia, impaired intellectual development + dysequilibrium syndrome 1 (VLDLR)
  • Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (SNAP29)
  • Charcot-Marie-Tooth disease, axonal, type 20 (DYNC1H1)
  • Chudley-McCullough syndrome (GPSM2)
  • Ciliary dyskinesia, primary, 47, and lissencephaly (TP73)
  • Congenital heart defects, dysmorphic facial features + intellectual developmental disorder (CDK13)
  • Cortical dysplasia, complex, with other brain malformations 1 (TUBB3)
  • Cortical dysplasia, complex, with other brain malformations 10 (APC2)
  • Cortical dysplasia, complex, with other brain malformations 2 (KIF5C)
  • Cortical dysplasia, complex, with other brain malformations 3 (KIF2A)
  • Cortical dysplasia, complex, with other brain malformations 4 (TUBG1)
  • Cortical dysplasia, complex, with other brain malformations 5 (TUBB2A)
  • Cortical dysplasia, complex, with other brain malformations 6 (TUBB)
  • Cortical dysplasia, complex, with other brain malformations 7 (TUBB2B)
  • Cortical dysplasia, complex, with other brain malformations 8 (TUBA8)
  • Cortical dysplasia, complex, with other brain malformations 9 (CTNNA2)
  • Cortical dysplasia-focal epilepsy syndrome (CNTNAP2)
  • Cortical malformations, occipital (LAMC3)
  • Developmental + epileptic encephalopathy 1 (ARX)
  • Developmental + epileptic encephalopathy 98 (ATP1A2)
  • Developmental and epileptic encephalopathy 101 (GRIN1)
  • Developmental and epileptic encephalopathy 27 (GRIN2B)
  • Developmental and epileptic encephalopathy 62 (SCN3A)
  • Developmental and epileptic encephalopathy 99 (ATP1A3)
  • Dystonia-12 (ATP1A3)
  • Epilepsy, familial focal, with variable foci 1 (DEPDC5)
  • Epilepsy, familial focal, with variable foci 4 (SCN3A)
  • Focal cortical dysplasia, type II, somatic (MTOR)
  • Focal cortical dysplasia, type II, somatic (TSC2)
  • Galloway-Mowat syndrome 3 (OSGEP)
  • Genitourinary and/or/brain malformation syndrome (PPP1R12A)
  • Global developmental delay [panelapp] (RAB11A)
  • Heterotopia, periventricular, 1 (FLNA)
  • Intellectual development disorder, microcephaly +/- eye malform/hypogonadot. hypogonadism (SOX11)
  • Intellectual developmental disorder + microcephaly with pontine + cereb. hypoplasia (CASK)
  • Intellectual developmental disorder with autism + speech delay (TBR1)
  • Intellectual developmental disorder, AD 13 (DYNC1H1)
  • Intellectual developmental disorder, AD 6, +/- seizures (GRIN2B)
  • Intellectual developmental disorder, AR 34, with variant lissencephaly (CRADD)
  • Intellectual developmental disorder, AR 75, neuropsych. features, variant lissencephaly (PIDD1)
  • Intellectual developmental disorder, XL 29 (ARX)
  • Intellectual disability [panelapp] (RAB11A)
  • Lhermitte-Duclos disease (PTEN)
  • Lissencephaly 1 (PAFAH1B1)
  • Lissencephaly 10 (CEP85L)
  • Lissencephaly 2, Norman-Roberts type (RELN)
  • Lissencephaly 3 (TUBA1A)
  • Lissencephaly 4 {with microcephaly} (NDE1)
  • Lissencephaly 5 (LAMB1)
  • Lissencephaly 6, with microcephaly (KATNB1)
  • Lissencephaly 9 with complex brainstem malformation (MACF1)
  • Lissencephaly, XL (DCX)
  • Lissencephaly, XL 2 (ARX)
  • Macrocephaly/autism syndrome (PTEN)
  • Martsolf syndrome 1 (RAB3GAP2)
  • Martsolf syndrome 2 (RAB3GAP1)
  • Megalencephalic leukoencephalopathy with subcortical cysts 2A (HEPACAM)
  • Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic (PIK3CA)
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 (PIK3R2)
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (AKT3)
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 (CCND2)
  • Mental retardation, AD 13 (DYNC1H1)
  • Mental retardation, XL 29 and others (ARX)
  • Mental retardation, with/-out nystagmus (CASK)
  • Microcephaly 2, primary, AR, with/-out cortical malformations (WDR62)
  • Microcephaly 5, primary, AR (ASPM)
  • Microcephaly, short stature + polymicrogyria with seizures (RTTN)
  • Muscular dystrophy, congenital, merosin deficient or partially deficient (LAMA2)
  • Muscular dystrophy-dystroglycanopathy (cong. with brain + eye anomalies), type A, 1 (POMT1)
  • Muscular dystrophy-dystroglycanopathy (cong. with brain + eye anomalies), type A, 11 (B3GALNT2)
  • Muscular dystrophy-dystroglycanopathy (cong. with brain + eye anomalies), type A, 2 (POMT2)
  • Muscular dystrophy-dystroglycanopathy (cong. with brain + eye anomalies), type A, 3 (POMGNT1)
  • Muscular dystrophy-dystroglycanopathy (cong. with brain + eye anomalies), type A, 4 (FKTN)
  • Muscular dystrophy-dystroglycanopathy (cong. with brain + eye anomalies), type A, 5 (FKRP)
  • Muscular dystrophy-dystroglycanopathy (cong. with brain + eye anomalies), type A, 6 (LARGE1)
  • Muscular dystrophy-dystroglycanopathy (cong. with brain + eye anomalies), type A, 7 (CRPPA)
  • Muscular dystrophy-dystroglycanopathy (cong. with brain + eye anomalies), type A, 8 (POMGNT2)
  • Muscular dystrophy-dystroglycanopathy (cong. with brain + eye anomalies), type A, 9 (DAG1)
  • Muscular dystrophy-dystroglycanopathy (cong. with mental retardation), type B, 1 (POMT1)
  • Muscular dystrophy-dystroglycanopathy (cong. with mental retardation), type B, 2 (POMT2)
  • Muscular dystrophy-dystroglycanopathy (cong. with mental retardation), type B, 3 (POMGNT1)
  • Muscular dystrophy-dystroglycanopathy (cong. with mental retardation), type B, 6 (LARGE1)
  • Muscular dystrophy-dystroglycanopathy (cong. with/-out mental retard.), type B, 5 (FKRP)
  • Neurodevelopmental disorder +/- variable brain abnormalities (MAPK8IP3)
  • Neurodevelopmental disorder with microcephaly, cortical malformations + spasticity (TMX2)
  • Neurodevelopmental disorder with microcephaly, seizures + cortical atrophy (VARS1)
  • Neurodevelopmental disorder with or without hyperkinetic movements and seizures, AD (GRIN1)
  • Neurodevelopmental disorder with or without hyperkinetic movements and seizures, AR (GRIN1)
  • Neurodevelopmental disorder with spasticity, seizures + brain abnormalities (NSRP1)
  • Okur-Chung neurodevelopmental syndrome (CSNK2A1)
  • Orofaciodigital syndrome [panelapp, MONDO:0015375] (TBC1D32)
  • Pachygyria, microcephaly, developmental delay, dysmorphic facies, with/-out seizures (TUBGCP2)
  • Pallister-Hall-like syndrome (SMO)
  • Partington syndrome (ARX)
  • Periventricular heterotopia with microcephaly (ARFGEF2)
  • Periventricular nodular heterotopia 7 (NEDD4L)
  • Periventricular nodular heterotopia 8 (ARF1)
  • Periventricular nodular heterotopia 9 (MAP1B)
  • Peroxisome biogenesis disorder 10A [Zellweger] (PEX3)
  • Peroxisome biogenesis disorder 10B (PEX3)
  • Peroxisome biogenesis disorder 11A [Zellweger] (PEX13)
  • Peroxisome biogenesis disorder 11B (PEX13)
  • Peroxisome biogenesis disorder 12A [Zellweger] (PEX19)
  • Peroxisome biogenesis disorder 13A [Zellweger] (PEX14)
  • Peroxisome biogenesis disorder 14B (PEX11B)
  • Peroxisome biogenesis disorder 1A [Zellweger] (PEX1)
  • Peroxisome biogenesis disorder 1B [NALD/IRD] (PEX1)
  • Peroxisome biogenesis disorder 2A [Zellweger] (PEX5)
  • Peroxisome biogenesis disorder 2B (PEX5)
  • Peroxisome biogenesis disorder 3A [Zellweger] (PEX12)
  • Peroxisome biogenesis disorder 3B (PEX12)
  • Peroxisome biogenesis disorder 4A [Zellweger] (PEX6)
  • Peroxisome biogenesis disorder 4B (PEX6)
  • Peroxisome biogenesis disorder 5A [Zellweger] (PEX2)
  • Peroxisome biogenesis disorder 5B (PEX2)
  • Peroxisome biogenesis disorder 6A [Zellweger] (PEX10)
  • Peroxisome biogenesis disorder 6B (PEX10)
  • Peroxisome biogenesis disorder 7A [Zellweger] (PEX26)
  • Peroxisome biogenesis disorder 7B (PEX26)
  • Peroxisome biogenesis disorder 8A [Zellweger] (PEX16)
  • Peroxisome biogenesis disorder 8B (PEX16)
  • Peroxisome biogenesis disorder 9B (PEX7)
  • Polymicrogyria, bilateral frontoparietal (ADGRG1)
  • Polymicrogyria, bilateral perisylvian (ADGRG1)
  • Polymicrogyria, perisylvian, cerebellar hypoplasia + arthrogryposis (PI4KA)
  • Proud syndrome (ARX)
  • Pseudo-TORCH syndrome 1 (OCLN)
  • Ritscher-Schinzel syndrome 4 (DPYSL5)
  • Schizencephaly (EMX2)
  • Smith-Kingsmore syndrome (MTOR)
  • Spastic paraplegia 84, AR (PI4KA)
  • Subcortical laminal heterotopia, XL (DCX)
  • Subcortical laminar heterotopia (PAFAH1B1)
  • Tuberous sclerosis-1 (TSC1)
  • Tuberous sclerosis-2 (TSC2)
  • Van Maldergem syndrome 1 (DCHS1)
  • Warburg micro syndrome 1 (RAB3GAP1)
  • Warburg micro syndrome 2 (RAB3GAP2)
  • Warburg micro syndrome 3 (RAB18)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
Q04.8

Bioinformatik und klinische Interpretation

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