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ErkrankungMentale Retardierung, hirnorganisch

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Mentale Retardierung, hirnorganisch, mit 11 bzw. zusammen genommen 101 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
MP7891
Anzahl Gene
100 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
22,6 kb (Core-/Basis-Gene)
277,6 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

[Sanger]

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
CASK2766XL
DCX1083XL
EIF2B52166AR
FOXP22148AD
SNX142841AR
TSC13495AD und/oder Sus
TUBA1A1356AD
TUBB1335AD
TUBB2A1338AD
TUBB2B1338AD
TUBB31353AD
TUBG11356AD
ABCD12238XLR
ACO22343AR
ADGRG12064AR
AIMP1939AR
AMPD22478AR
APC26912AR
ARFGEF25358AR
BLTP115018AR
CA8873AR
CAMTA15022AD
CCND2870AD
CDON3795AD
CHMP1A591AR
CLN31317AR
CLN51077AR
CLN6936AR
CLN8861AR
CLP11086AR
CNOT17401AD
CNTNAP23996AR
CRADD600AR
CRB23858AR
CTNNA22583AR
CTSD1239AR
DARS11506AR
DARS21938AR
DEGS11018AR
EMC12979AR
EML12448AR
EMX2759AD
EXOSC3828AR
FAM126A1566AR
FAT414946AR
FLNA7920XL
GJC21320AD und/oder AR
GLI24761AD
HEPACAM1251AD und/oder AR
KCTD7870AR
KIF2A2235AD
KIF5C2874AD
KIF74032AR und/oder Dig
LAMB15361AR
LAMC34728AR
MACF116293AD
MLC11134AR
MTOR7650AD
NDE11008AR
NF18457AD und/oder SMu und/oder Sus
OCLN1569AR
OPHN12409XLR
PAFAH1B11233AD
PLA2G62421AR
PLP1834XLR
POLR3A4173AR
POLR3B3402AR
PPT1921AR
PSAP1575AR
PYCR2741AR
RAC3589AD
RALA625AD
RARS11983AR
RARS21737AR
RELN10383AD und/oder AR
RNASET2771AR
RXYLT11355AR
SEPSECS1506AR
SHH1389AD und/oder Dig
SIX3999AD und/oder AR
SLC12A63453AR
TBC1D232100AR
TBCD7465AR
TGIF1819AD
TMTC32745AR
TMX2899AR
TOE11488AR
TPP11692AR
TSC25424AD und/oder Sus
TSEN21398AR
TSEN34933AR
TSEN541581AR
TUBB4A1335AD
UBTF2295AD
UFM1405AR
VLDLR2622AR
VPS532499AR
VRK11191AR
WDR451086XLD
ZIC21599AD

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 genetische Ätiologien die häufigste Ursache dar, die bei >50% der Patienten nachweisbar ist. Dieser Prozentsatz nimmt angesichts von effizienten NGS-Technologien zu. Hirnfehlbildungen verursachen nicht wenige Fälle von intellektuellen Defiziten und umfassen eine Gruppe von genetischen Entwicklungsstörungen des Gehirns, die in der Kindheit mit intellektueller Behinderung (und anderen neurologischen Merkmalen) auftreten. In einigen Fällen entstehen Fehlbildungen des Vorder-, Mittel-/Hinterhirns und der Kortikalis durch de novo oder somatische Mutationsereignisse im Gameten- oder Postzygotenstadium, aber viele Fälle von Hirnfehlbildungen sind das Ergebnis seltener, vererbbarer Ursachen. Insbesondere werden hier Genmutationen für Holoprosenzephalie, Agenesie des Corpus callosum, Septo-optische Dysplasie, pontozerebelläre und zerebelläre Hypoplasie, Dandy-Walker-Fehlbildung, "Molar tooth sign", Mikrozephalie, Megalenzephalie, Lissenzephalie, Heterotopie, Polymikrogyrie, Schizenzephalie und fokale kortikale Dysplasien behandelt. Autosomal dominante und rezessive sowie X-chromosomale Erbgänge werden beobachtet. Die DNA-diagnostische Ausbeute nimmt zwar zu, ist aber derzeit insgesamt nicht genau zu quantifizieren. Die klinische Diagnose kann durch ein negatives molekulargenetisches Ergebnis keinesfalls ausgeschlossen werden.

Referenzen: Medizinische Genetik 3/2018

 

Synonyme
  • Alias: Intellectual disability, brain organic
  • Alias: Psycho-motor retardation, btrain organic
  • Allelic: Autism susceptibility 15 (CNTNAP2)
  • Allelic: Epilepsy, familial temporal lobe, 7 (RELN)
  • Allelic: Fibrosis of extraocular muscles, congenital, 3A (TUBB3)
  • Allelic: Focal segmental glomerulosclerosis 9 (CRB2)
  • Allelic: Hennekam lymphangiectasia-lymphedema syndrome 2 (FAT4)
  • Allelic: Hydranencephaly with abnormal genitalia (ARX)
  • Allelic: Leukemia, juvenile myelomonocytic (NF1)
  • Allelic: Lymphangioleiomyomatosis (TSC1)
  • Allelic: Lymphatic malformation 3 (GJC2)
  • Allelic: Microhydranencephaly (NDE1)
  • Allelic: Microphthalmia with coloboma 5 (SHH)
  • Allelic: Neurofibromatosis, familial spinal (NF1)
  • Allelic: Optic atrophy 9 (ACO2)
  • Allelic: Parkinson disease 14, AR (PLA2G6)
  • Allelic: Parkinson disease 24, AD, susceptibility to (PSAP)
  • Allelic: Pitt-Hopkins like syndrome 1 (CNTNAP2)
  • Allelic: Single median maxillary central incisor (SHH)
  • Allelic: Sotos syndrome 3 (APC2)
  • Allelic: Spastic paraplegia 44, AR (GJC2)
  • Allelic: Spastic paraplegia 63 (AMPD2)
  • Allelic: Subcortical laminar heterotopia (PAFAH1B1)
  • Allelic: Symmetric circumferential skin creases, congenital, 1 (TUBB)
  • Allelic: Vissers-Bodmer syndrome (CNOT1)
  • Allelic: Watson syndrome (NF1)
  • Adrenoleukodystrophy (ABCD1)
  • Adrenomyeloneuropathy, adult (ABCD1)
  • Agenesis of the corpus callosum with peripheral neuropathy (SLC12A6)
  • Alkuraya-Kucinskas syndrome (KIAA1109))
  • Band heterotopia (EML1)
  • Cerebellar ataxia + mental retardation with/-out quadrupedal locomotion 3 (CA8)
  • Cerebellar ataxia, nonprogressive, with mental retardation (CAMTA1)
  • Cerebellar atrophy, visual impairment + psychomotor retardation (EMC1)
  • Cerebellar hypoplasia + mental retardation with/-out quadrupedal locomotion 1 (VLDLR)
  • Ceroid lipofuscinosis, neuronal, 1 (PPT1)
  • Ceroid lipofuscinosis, neuronal, 10 (CTSD)
  • Ceroid lipofuscinosis, neuronal, 2 (TPP1)
  • Ceroid lipofuscinosis, neuronal, 3 (CLN3)
  • Ceroid lipofuscinosis, neuronal, 4A [Kufs type], AR (CLN6)
  • Ceroid lipofuscinosis, neuronal, 5 (CLN5)
  • Ceroid lipofuscinosis, neuronal, 6 (CLN6)
  • Ceroid lipofuscinosis, neuronal, 8 (CLN8)
  • Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant (CLN8)
  • Combined SAP deficiency (PSAP)
  • 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-focal epilepsy syndrome (CNTNAP2)
  • Cortical malformations, occipital (LAMC3)
  • Culler-Jones syndrome (GLI2)
  • Developmental + epileptic encephalopathy 1 (ARX)
  • Dystonia 4, torsion, AD (TUBB4A)
  • Encephalopathy, progressive, early-onset, with brain atrophy + thin corpus callosum (TBCD)
  • Epilepsy, progressive myoclonic 3, with/-out intracellular inclusions (KCTD7)
  • FG syndrome 4 (CASK)
  • Focal cortical dysplasia, type II, somatic (MTOR)
  • Focal cortical dysplasia, type II, somatic (TSC1)
  • Gaucher disease, atypical (PSAP)
  • Hiatt-Neu-Cooper neurodevelopmental syndrome (RALA)
  • Holoprosencephaly 11 (CDON)
  • Holoprosencephaly 12, with/-out pancreatic agenesis (CNOT1)
  • Holoprosencephaly 2 (SIX3)
  • Holoprosencephaly 3 (SHH)
  • Holoprosencephaly 4 (TGIF1)
  • Holoprosencephaly 5 (ZIC2)
  • Holoprosencephaly 9 (GLI2)
  • Hypomyelination with brainstem + spinal cord involvement + leg spasticity (DARS1)
  • Infantile cerebellar-retinal degeneration (ACO2)
  • Infantile neuroaxonal dystrophy 1 (PLA2G6)
  • Krabbe disease, atypical (PSAP)
  • Leukodystrophy, hypomyelinating, 10 (PYCR2)
  • Leukodystrophy, hypomyelinating, 14 (UFM1)
  • Leukodystrophy, hypomyelinating, 18 (DEGS1)
  • Leukodystrophy, hypomyelinating, 2 (GJC2)
  • Leukodystrophy, hypomyelinating, 3 (AIMP)
  • Leukodystrophy, hypomyelinating, 5 (FAM126A)
  • Leukodystrophy, hypomyelinating, 6 (TUBB4A)
  • Leukodystrophy, hypomyelinating, 7, with/-out oligodontia +/- hypogonadotr. hypogonadism (POLR3A)
  • Leukodystrophy, hypomyelinating, 8, with/-out oligodontia +/- hypogonadotr. hypogonadism (POLR3B)
  • Leukoencephalopathy with brain stem + spinal cord involvement + lactate elevation (DARS2)
  • Leukoencephalopathy with vanishing white matter (EIF2B5)
  • Leukoencephalopathy, cystic, without megalencephaly (RNASET2)
  • Lissencephaly 1 (PAFAH1B1)
  • Lissencephaly 2 [Norman-Roberts type] (RELN)
  • Lissencephaly 3 (TUBA1A)
  • Lissencephaly 4 [with microcephaly] (NDE1) Lissencephaly 8 (TMTC3)
  • Lissencephaly 5 (LAMB1)
  • Lissencephaly 9 with complex brainstem malformation (MACF1)
  • Lissencephaly, XL (DCX)
  • Lissencephaly, XL 2 (ARX)
  • Megalencephalic leukoencephalopathy with subcortical cysts (MLC1)
  • Megalencephalic leukoencephalopathy with subcortical cysts 2A (HEPACAM)
  • Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitt., +/- ment. retard. (HEPACAM)
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 (CCND2)
  • Mental retardation, AR 34, with variant lissencephaly (CRADD)
  • Mental retardation, XL 29 + others (ARX)
  • Mental retardation, XL, with cerebellar hypoplasia + distinctive facial appearance (OPHN1)
  • Mental retardation, microcephaly with pontine + cerebellar hypoplasia (CASK)
  • Mental retardation, with or without nystagmus (CASK)
  • Metachromatic leukodystrophy due to SAP-b deficiency (PSAP)
  • Muscular dystrophy-dystroglycanopathy (cong. with brain + eye anomalies), type A, 10 (RXYLT1)
  • Neurodegeneration with brain iron accumulation 2B (PLA2G6)
  • Neurodegeneration with brain iron accumulation 5 (WDR45)
  • Neurodegeneration, childhood-onset, with brain atrophy (UBTF)
  • Neurodevelopmental disorder with microcephaly, cortical malformations + spasticity (TMX2)
  • Neurodevelopmental disorder with structural brain anomalies + dysmorphic facies (RAC3)
  • Neurofibromatosis, type 1 (NF1)
  • Neurofibromatosis-Noonan syndrome (NF1)
  • Ovarioleukodystrophy (EIF2B5)
  • Partington syndrome (ARX)
  • Pelizaeus-Merzbacher disease (PLP1)
  • Periventricular heterotopia with microcephaly (ARFGEF2)
  • Polymicrogyria, bilateral frontoparietal (ADGRG1)
  • Polymicrogyria, bilateral perisylvian (ADGRG1)
  • Pontocerebellar hypoplasia type 10 (CLP1)
  • Pontocerebellar hypoplasia type 11 (TBC1D23)
  • Pontocerebellar hypoplasia type 1A (VRK1)
  • Pontocerebellar hypoplasia type 1B (EXOC3)
  • Pontocerebellar hypoplasia type 2A (TSEN54)
  • Pontocerebellar hypoplasia type 2B (TSEN2)
  • Pontocerebellar hypoplasia type 2C (TSEN34)
  • Pontocerebellar hypoplasia type 2D (SEPSECS)
  • Pontocerebellar hypoplasia type 2E (VPS53)
  • Pontocerebellar hypoplasia type 4 (TSEN54)
  • Pontocerebellar hypoplasia type 5 (TSEN54)
  • Pontocerebellar hypoplasia type 6 (RARS2)
  • Pontocerebellar hypoplasia type 8 (CHMP1A)
  • Pontocerebellar hypoplasia type 9 (AMPD2)
  • Pontocerebellar hypoplasia, type 7 (TOE1)
  • Proud syndrome (ARX)
  • Pseudo-TORCH syndrome 1 (OCLN)
  • Schizencephaly (EMX2)
  • Schizencephaly (SHH)
  • Schizencephaly (SIX3)
  • Smith-Kingsmore syndrome (MTOR)
  • Spastic paraplegia 2, XL (PLP1)
  • Speech-language disorder-1 (FOXP2)
  • Spinocerebellar ataxia, AR 20 (SNX14)
  • Spinocerebellar ataxia, AR 7 (TPP1)
  • Subcortical laminal heterotopia, XL (DCX)
  • Tuberous sclerosis-1 (TSC1)
  • Van Maldergem syndrome 2 (FAT4)
  • Ventriculomegaly with cystic kidney disease (CRB2)
  • Wiedemann-Rautenstrauch syndrome (POLR3A)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AD und/oder AR
  • AD und/oder Dig
  • AD und/oder SMu und/oder Sus
  • AD und/oder Sus
  • AR
  • AR und/oder Dig
  • XL
  • XLD
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
Q04.8

Bioinformatik und klinische Interpretation

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