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ErkrankungMikrozephalie, pränatal und postnatal; Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Mikrozephalie, pränatal + postnatal, mit 71 Leitlinien-kuratierten sowie insgesamt 113 kuratierten Genen

ID
MP1220
Anzahl Gene
117 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
208,7 kb (Core-/Basis-Gene)
338,4 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • Chorionzotten (CVS)
  • EDTA-Blut (3-5 ml)
  • Fruchtwasser (nach AC)
  • Nabelschnurblut (NB)
Diagnostische Hinweise

NGS +

[Sanger]

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
ACTB1128AD
ACTG11128AD
ADAR2796AD und/oder AR
ADGRG12064AR
ARFGEF25358AR
ASPM10434AR
ATM9171AD und/oder AR und/oder SMu und/oder Sus
ATR7935AD und/oder AR
CASK2766XL
CDC61683AR
CDK5783AR
CDON3795AD
CDT11641AR
CENPJ4017AR
CEP1524965AR und/oder Dig
CREBBP7329AD und/oder SMu und/oder Meth und/oder Impr
DCX1083XL
DISP14575AD und/oder Dig
DYNC1H113941AD
EP3007245AD und/oder SMu und/oder Meth und/oder Impr
ERMARD2037AD
FGF8735AD
FGFR12469AD und/oder Dig
FLNA7920XL
FLVCR21581AR
GLI24761AD
HESX1558AD und/oder AR
IFIH13078AD
KIF5C2874AD
LIG42736AR und/oder SMu und/oder Sus
MCPH12508AR
NBN2265AR und/oder Ass
NDE11008AR
NEDD4L2868AD
NHEJ1900AR
ORC12586AR
ORC41311AR
PAFAH1B11233AD
PCNT10011AR
POMGNT11983AR
POMT12244AR
RAB18621AR
RAB3GAP12946AR
RAB3GAP24182AR
RAD503939AR
RARS21737AR
RELN10383AD und/oder AR
RNASEH2A900AR
RNASEH2B939AR
RNASEH2C495AR
RNU4ATAC130AR
SAMHD11881AD und/oder AR und/oder Ass
SHH1389AD und/oder Dig
SIX3999AD und/oder AR
STIL3867AR
SUFU1455AD und/oder AR
TGIF1819AD
TREX1945AD und/oder AR und/oder Ass
TSEN21398AR
TSEN541581AR
TUBA1A1356AD
TUBB1335AD
TUBB2B1338AD
TUBB31353AD
TUBG11356AD
VLDLR2622AR
WDR624572AR
XRCC41005AR
ZIC21599AD
AKT31440AD
AP4M11362AR
BUB1B3153AD und/oder AR und/oder Sus
CDK5RAP25682AR und/oder Dig
CDKL53093XLD
CEP632112AR
CKAP2L2238AR
COX7B243XLD
DHCR71428AR
EFTUD22919AD
ERCC64482AD und/oder AR und/oder SMu und/oder Sus
ERCC81191AR und/oder Sus
EXOSC3828AR
FKRP1488AR
FKTN1386AR
FOXG11470AD
HDAC81134XLD
IER3IP1249AR
KATNB11968AR
KIF113171AD
KIF2A2235AD
KNL17029AR
MECP21461XL
MFSD2A1632AR
MYCN1395AD
NIPBL8415AD und/oder Impr
NODAL1044AD
ORC6759AR
PCLO14808AR
PLK42913AR
PNKP1566AR
POMT22253AR
PQBP1798XLR und/oder Impr
PTCH14344AD und/oder SMu
RAD211896AD und/oder AR und/oder SMu und/oder Impr
RBBP82694AR
RTTN6681AR
SLC9A62010XLD
SMC1A3702XLD und/oder Impr
SMC33654AD und/oder SMu und/oder Impr
STAMBP1275AR
THOC61026AR
TSEN34933AR
TUBB2A1338AD
TUBGCP65460AR
UBE3A2559AD und/oder Mult
VRK11191AR
ZEB23645AD

Infos zur Erkrankung

Klinischer Kommentar

Primäre Mikrozephalie (MCPH) ist eine Störung der Gehirnentwicklung, die dazu führt, dass der okzipitofrontale Kopfumfang signifikant unter dem Mittelwert für (Schwangerschafts-) Alter und Geschlecht liegt. MCPH hat viele nicht-genetische Ursachen, während die genetisch-bedingten Mikrozephalien/Syndrome insgesamt relativ selten sind. Bei Mikrozephalie mutierte Gene kodieren für zentrosomale Proteine (Zentriolen-Biogenese) und viele verschiedene mechanistische Kategorien, insbesondere DNA-Replikation und -Reparatur. Der Schweregrad der Entwicklungsverzögerung/ intellektuellen Behinderung scheint mit dem Schweregrad der primären Mikrozephalie zu korrelieren. Dieses Mikrozephalie panel ist gemäß den Leitlinien (s.u.) zusammengestellt bzw. fasst die relevanten Gene mehrerer Kategorien zusammen. Alle klassischen Erbgänge werden bei Mikrozephalie beobachtet, multifaktorielle Geschehen stehen jedoch ganz im Vordergrund. Die Diagnoseraten schwanken zwischen den Mikrozephalie-Kategorien und sind vordringlich von den klinischen Voruntersuchungsergebnissen abhängig. Ein unauffälliger genetischer Befund bedeutet keinen Ausschluss der klinischen Verdachtsdiagnose.

Referenz: https://www.awmf.org/uploads/tx_szleitlinien/022-028l_S2k_Klassifikation_Diagnostik_Mikrozephalie_2019-11.pdf

 

Synonyme
  • DNA repair disorders + dysmorphism + congenital abnormality syndromes
  • Alias: Primary microcephaly - microcephalic dwarfism spectrum
  • Allelic: Aplastic anemia (NBN)
  • Allelic: Ataxia-oculomotor apraxia 4 (PNKP)
  • Allelic: Basal cell nevus syndrome (SUFU)
  • Allelic: Breast cancer, susceptibility to (ATM)
  • Allelic: Cardiac valvular dysplasia, XL (FLNA)
  • Allelic: Charcot-Marie-Tooth disease, axonal, type 20 (DYNC1H1)
  • Allelic: Charcot-Marie-Tooth disease, type 2B2 (PNKP)
  • Allelic: Chilblain lupus (TREX1)
  • Allelic: Chilblain lupus 2 (SAMHD1)
  • Allelic: Colorectal cancer, somatic (EP300)
  • Allelic: Congenital short bowel syndrome (FLNA)
  • Allelic: Cutaneous telangiectasia + cancer syndrome, familial (ATR)
  • Allelic: Deafness, AD 20/26 (ACTG1)
  • Allelic: Developmental + epileptic encephalopathy 1 (ARX)
  • Allelic: Dyschromatosis symmetrica hereditaria (ADAR)
  • Allelic: Dystonia, juvenile-onset (ACTB)
  • Allelic: Encephalocraniocutaneous lipomatosis, somatic mosaic (FGFR1)
  • Allelic: Epilepsy, familial temporal lobe, 7 (RELN)
  • Allelic: FG syndrome 2 (FLNA)
  • Allelic: FG syndrome 4 (CASK)
  • Allelic: Fibrosis of extraocular muscles, congenital, 3A (TUBB3)
  • Allelic: Hypogonadotropic hypogonadism 2 with/-out anosmia (FGFR1)
  • Allelic: Intestinal pseudoobstruction, neuronal (FLNA)
  • Allelic: Leukemia, acute lymphoblastic (NBN)
  • Allelic: Lymphoma, B-cell non-Hodgkin, somatic (ATM)
  • Allelic: Lymphoma, mantle cell, somatic (ATM)
  • Allelic: Medulloblastoma, desmoplastic (SUFU)
  • Allelic: Meningioma, familial, susceptibility to (SUFU)
  • Allelic: Mental retardation, XL 29 + others (ARX)
  • Allelic: Mental retardation, with/-out nystagmus (CASK)
  • Allelic: Microphthalmia with coloboma 5 (SHH)
  • Allelic: Multiple myeloma, resistance to (LIG4)
  • Allelic: Otopalatodigital syndrome, type I (FLNA)
  • Allelic: Otopalatodigital syndrome, type II (FLNA)
  • Allelic: Single median maxillary central incisor (SHH)
  • Allelic: Singleton-Merten syndrome 1 (IFIH1)
  • Allelic: Spinal muscular atrophy, lower extremity-predominant 1, AD (DYNC1H1)
  • Allelic: Symmetric circumferential skin creases, congenital, 1 (TUBB)
  • Allelic: Systemic lupus erythematosus, susceptibility to (TREX1)
  • Allelic: T-cell prolymphocytic leukemia, somatic (ATM)
  • Allelic: Vasculopathy, retinal, with cerebral leukoencephalopathy + systemic manifestations (TREX1)
  • Aicardi-Goutieres syndrome 1, AD + AR (TREX1)
  • Aicardi-Goutieres syndrome 2 (RNASEH2B)
  • Aicardi-Goutieres syndrome 3 (RNASEH2C)
  • Aicardi-Goutieres syndrome 4 (RNASEH2A)
  • Aicardi-Goutieres syndrome 5 (SAMHD1)
  • Aicardi-Goutieres syndrome 6 (ADAR)
  • Aicardi-Goutieres syndrome 7 (IFIH1)
  • Angelman syndrome (UBE3A)
  • Ataxia-telangiectasia (ATM)
  • Baraitser-Winter syndrome 1 (ACTB)
  • Baraitser-Winter syndrome 2 (ACTG1)
  • Beaulieu-Boycott-Innes syndrome (THOC6)
  • Cerebellar hypoplasia + mental retardation with/-out quadrupedal locomotion 1 (VLDLR)
  • Cerebrooculofacioskeletal syndrome 1 (ERCC6)
  • Cockayne syndrome, type A (ERCC8)
  • Cockayne syndrome, type B (ERCC6)
  • Cornelia de Lange syndrome 1 (NIPBL)
  • Cornelia de Lange syndrome 2 (SMC1A)
  • Cornelia de Lange syndrome 3 (SMC3)
  • Cornelia de Lange syndrome 4 (RAD21)
  • Cornelia de Lange syndrome 5 (HDAC8)
  • Cortical dysplasia, complex, with other brain malformations 1 (TUBB3)
  • 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)
  • Culler-Jones syndrome (GLI2)
  • De Sanctis-Cacchione syndrome (ERCC6)
  • Developmental + epileptic encephalopathy 2 (CDKL5)
  • Developmental + epileptic encephalopathy 85, with/-out midline brain defect (SMC1A)
  • Feingold syndrome 1 (MYCN)
  • Filippi syndrome (CKAP2L)
  • Frontometaphyseal dysplasia 1 (FLNA)
  • Growth hormone deficiency with pituitary anomalies (HESX1)
  • Hartsfield syndrome (FGFR1)
  • Heterotaxy, visceral, 5 (NODAL)
  • Heterotopia, periventricular, 1 (FLNA)
  • Holoprosencephaly 11 (CDON)
  • Holoprosencephaly 2 (SIX3)
  • Holoprosencephaly 3 (SHH)
  • Holoprosencephaly 4 (TGIF1)
  • Holoprosencephaly 5 (ZIC2)
  • Holoprosencephaly 7 (PTCH1)
  • Holoprosencephaly 9 (GLI2)
  • Holoprosencephaly [MONDO:0016296] (DISP1)
  • Hydranencephaly with abnormal genitalia (ARX)
  • Hypogonadotropic hypogonadism 6 with/-out anosmia (FGF8)
  • Jackson-Weiss syndrome (FGFR1)
  • Joubert syndrome 32 (SUFU)
  • LIG4 syndrome (LIG4)
  • Lissencephaly 1 (PAFAH1B1)
  • Lissencephaly 2 [Norman-Roberts type] (RELN)
  • Lissencephaly 3 (TUBA1A)
  • Lissencephaly 4 [with microcephaly] (NDE1)
  • Lissencephaly 6, with microcephaly (KATNB1)
  • Lissencephaly 7 with cerebellar hypoplasia (CDK5)
  • Lissencephaly, XL (DCX)
  • Lissencephaly, XL 2 (ARX)
  • Lowry-Wood syndrome (RNU4ATAC)
  • Mandibulofacial dysostosis, Guion-Almeida type (EFTUD2)
  • Martsolf syndrome 1 (RAB3GAP2)
  • Martsolf syndrome 2 (RAB3GAP1)
  • Meier-Gorlin syndrome 1 (ORC1)
  • Meier-Gorlin syndrome 2 (ORC4)
  • Meier-Gorlin syndrome 3 (ORC6)
  • Meier-Gorlin syndrome 4 (CDT1)
  • Meier-Gorlin syndrome 5 (CDC6)
  • Melnick-Needles syndrome (FLNA)
  • Menke-Hennekam syndrome 1 (CREBBP)
  • Menke-Hennekam syndrome 2 (EP300)
  • Mental retardation + microcephaly with pontine + cerebellar hypoplasia (CASK)
  • Mental retardation, AD 13 (DYNC1H1)
  • Mental retardation, XL syndromic, Christianson type (SLC9A6)
  • Microcephalic osteodysplastic primordial dwarfism, type I (RNU4ATAC)
  • Microcephalic osteodysplastic primordial dwarfism, type II (PCNT)
  • Microcephaly + chorioretinopathy, AR, 1 (TUBGCP6)
  • Microcephaly + chorioretinopathy, AR, 2 (PLK4)
  • Microcephaly 1, primary, AR (MCPH1)
  • Microcephaly 2, primary, AR, with/-out cortical malformations (WDR62)
  • Microcephaly 3, primary, AR (CDK5RAP2)
  • Microcephaly 4, primary, AR (KNL1)
  • Microcephaly 5, primary, AR (ASPM)
  • Microcephaly 6, primary, AR (CENPJ)
  • Microcephaly 7, primary, AR (STIL)
  • Microcephaly 9, primary, AR (CEP152)
  • Microcephaly with/-out chorioretinopathy, lymphedema or mental retardation (KIF11)
  • Microcephaly, epilepsy + diabetes syndrome (IER3IP1)
  • Microcephaly, seizures + developmental delay (PNKP)
  • Microcephaly, short stature + polymicrogyria with seizures (RTTN)
  • Microcephaly-capillary malformation syndrome (STAMBP)
  • Microhydranencephaly (NDE1)
  • Mowat-Wilson syndrome (ZEB2)
  • Mungan syndrome (RAD21)
  • Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 1 (POMT1)
  • 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)
  • Neurodevelopmental disorder with progressive microcephaly, spasticity + brain abnormalities (MFSD2A)
  • Nijmegen breakage syndrome (NBN)
  • Nijmegen breakage syndrome-like disorder (RAD50)
  • Osteoglophonic dysplasia (FGFR1)
  • Partington syndrome (ARX)
  • Periventricular heterotopia with microcephaly (ARFGEF2)
  • Periventricular nodular heterotopia 6 (ERMARD)
  • Periventricular nodular heterotopia 7 (NEDD4L)
  • Pfeiffer syndrome (FGFR1)
  • Pituitary hormone deficiency, combined, 5 (HESX1)
  • Polymicrogyria, bilateral frontoparietal (ADGRG1)
  • Polymicrogyria, bilateral perisylvian (ADGRG1)
  • Pontocerebellar hypoplasia type 1A (VRK1)
  • Pontocerebellar hypoplasia type 1B (EXOSC3)
  • Pontocerebellar hypoplasia type 2A (TSEN54)
  • Pontocerebellar hypoplasia type 2B (TSEN2)
  • Pontocerebellar hypoplasia type 2C (TSEN34)
  • Pontocerebellar hypoplasia type 3 (PCLO)
  • Pontocerebellar hypoplasia type 4 (TSEN54)
  • Pontocerebellar hypoplasia type 5 (TSEN54)
  • Pontocerebellar hypoplasia type 6 (RARS2)
  • Proliferative vasculopathy + hydranencephaly-hydrocephaly syndrome (FLVCR2)
  • Proud syndrome (ARX)
  • Pseudo-TORCH syndrome 1 (OCLN)
  • Renpenning syndrome (PQBP1)
  • Rett syndrome (MECP2)
  • Rett syndrome, atypical (MECP2)
  • Rett syndrome, congenital variant (FOXG1)
  • Rett syndrome, preserved speech variant (MECP2)
  • Roifman syndrome (RNU4ATAC)
  • Rubinstein-Taybi syndrome 1 (CREBBP)
  • Rubinstein-Taybi syndrome 2 (EP300)
  • Schizencephaly (SHH)
  • Schizencephaly (SIX3)
  • Seckel syndrome 1 (ATR)
  • Seckel syndrome 2 (RBBP8)
  • Seckel syndrome 4 (CENPJ)
  • Seckel syndrome 5 (CEP152)
  • Seckel syndrome 6 (CEP63)
  • Septooptic dysplasia (HESX1)
  • Severe comb. immunodef., microceph., growth retard., sensitivity to ionizing radiat. (NHEJ1)
  • Short stature, microcephaly + endocrine dysfunction (XRCC4)
  • Smith-Lemli-Opitz syndrome (DKCR7)
  • Subcortical laminal heterotopia, XL (DCX)
  • Subcortical laminar heterotopia (PAFAH1B1)
  • Terminal osseous dysplasia (FLNA)
  • Trigonocephaly 1 (FGFR1)
  • Warburg micro syndrome 1 (RAB3GAP1)
  • Warburg micro syndrome 2 (RAB3GAP2)
  • Warburg micro syndrome 3 (RAB18)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AD und/oder AR
  • AD und/oder AR und/oder Ass
  • AD und/oder AR und/oder SMu und/oder Impr
  • AD und/oder AR und/oder SMu und/oder Sus
  • AD und/oder AR und/oder Sus
  • AD und/oder Dig
  • AD und/oder Impr
  • AD und/oder Mult
  • AD und/oder SMu
  • AD und/oder SMu und/oder Impr
  • AD und/oder SMu und/oder Meth und/oder Impr
  • AR
  • AR und/oder Ass
  • AR und/oder Dig
  • AR und/oder SMu und/oder Sus
  • AR und/oder Sus
  • XL
  • XLD
  • XLD und/oder Impr
  • XLR und/oder Impr
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
Q02

Bioinformatik und klinische Interpretation

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