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ErkrankungRett-like-Syndrom, Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für "Rett-like"-Syndrom mit 10 bzw. zusammen genommen 55 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
RP0700
Anzahl Gene
54 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
22,6 kb (Core-/Basis-Gene)
150,6 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
CDKL53093XLD
FOXG11470AD
MECP21461XL
MEF2C1422AD und/oder Mult
SCN2A6018AD und/oder Dig
STXBP11812AD
UBE3A2559AD und/oder Mult
WDR451086XLD
ZEB23645AD
CNPY3837AR
CUX24461AD
DENND5A3864AR
DNM12595AD
DOCK76390AR
EEF1A21392AD
FRRS1L1035AR
GABBR22826AD
GABRA11371AD
GABRA21356AD und/oder Mult und/oder SMu
GABRB31422AD
GABRG21404AD
GNAO11065AD
GRIN2B4455AD
HCN12673AD
HNRNPU2478AD
ITPA585AR
KCNA21500AD
KCNB12577AD
KCNQ22619AD
KCNT13708AD
MDH21017AR
NTRK22517AD
PARS21428AR
PCDH193447XL
PHACTR11743AD
PIGQ1746AR
PLCB13651AR
SCN1A6030AD und/oder Dig
SCN1B657AD und/oder AR
SCN3A6003AD
SCN8A5943AD
SLC12A53351AD und/oder AR
SLC13A51707AR
SLC1A21725AD und/oder Ass
SLC25A122037AR
SLC25A22972AR
SPTAN17434AD
ST3GAL31128AR
SYNGAP14032AD
SYNJ14839AR
SZT210128AR
TBC1D241680AD und/oder AR
TRAK12862AR
WWOX1245AR

Infos zur Erkrankung

Klinischer Kommentar

Rett-like bzw. Rett-variant Syndrom weist ein breiteres klinisches Spektrum als das klassische Rett Syndrom im weibliche Geschlecht auf. Diese Spanne reicht von leichten Lernschwierigkeiten bis zur schweren Enzephalopathie des Neugeborenen bzw. Parkinsonismus oder schwere syndromische psychomotorische Retardierung. Die Symptome setzen demgemäß früh ein, und die verschiedenen Vererbungsmuster hängen vom betroffenen Gen (bzw. mehreren Genen) ab. Selbst mittels umfangreichen panel Untersuchungen mit mehreren Dutzend Genen findet man bei einigen Patienten abhängig von der klinischen Abklärung keine simple genetische Ursache.

Referenz: https://www.ncbi.nlm.nih.gov/books/NBK1497/

 

Synonyme
  • Sympt.: Autism, dementia, ataxia, loss of purposeful hand use
  • Sympt.: Developmental decline, speech loss, stereotypic movements hands, microcephaly, seizures, MR
  • Alias: Rett syndrome, atypical
  • Allelic: Autism susceptibility, XL 3 (MECP2)
  • Allelic: Brugada syndrome 5 (SCN1B)
  • Allelic: Chromosome 5q14.3 deletion syndrome (MEF2C)
  • Allelic: DOORS syndrome (TBC1D24)
  • Allelic: Deafness , Ar 86 (TBC1D24)
  • Allelic: Deafness, AD 65 (TBC1D24)
  • Allelic: Encephalopathy, neonatal severe (MECP2)
  • Allelic: Epilepsy, familial focal, with variable foci 4 (SCN3A)
  • Allelic: Epilepsy, generalized, with febrile seizures plus, type 1 (SCN1B)
  • Allelic: Epilepsy, generalized, with febrile seizures plus, type 2 (SCN1A)
  • Allelic: Epilepsy, generalized, with febrile seizures plus, type 3 (GABRG2)
  • Allelic: Epilepsy, nocturnal frontal lobe, 5 (KCNT1)
  • Allelic: Epilepsy, rolandic, with proxysmal exercise-induce dystonia + writer's cramp (TBC1D24)
  • Allelic: Episodic ataxia, type 9 (SCN2A)
  • Allelic: Esophageal squamous cell carcinoma, somatic (WWOX)
  • Allelic: Febrile seizures, familial, 3A (SCN1A)
  • Allelic: Febrile seizures, familial, 8 (GABRG2)
  • Allelic: Generalized epilepsy with febrile seizures plus, type 10 (HCN1)
  • Allelic: Hydranencephaly with abnormal genitalia (ARX)
  • Allelic: Lissencephaly, XL 2 (ARX)
  • Allelic: Mental retardation, AD 38 (EEF1A2)
  • Allelic: Mental retardation, AD 6 (GRIN2B)
  • Allelic: Mental retardation, AR 12 (ST3GAL3)
  • Allelic: Mental retardation, XL 29 + others (ARX)
  • Allelic: Mental retardation, XL syndromic, Lubs type (MECP2)
  • Allelic: Mental retardation, XL, syndromic 13 (MECP2)
  • Allelic: Migraine, familial hemiplegic, 3 (SCN1A)
  • Allelic: Myoclonic epilepsy, infantile, familial (TBC1D24)
  • Allelic: Myokymia (KCNQ2)
  • Allelic: Obesity, hyperphagia + developmental delay (NTRK2)
  • Allelic: Parkinson disease 20, early-onset (SYNJ1)
  • Allelic: Seizures, benign familial infantile, 3 (SCN2A)
  • Allelic: Seizures, benign familial infantile, 5 (SCN8A)
  • Allelic: Seizures, benign neonatal, 1 (KCNQ2)
  • Allelic: Spinocerebellar ataxia, AR 12 (WWOX)
  • Angelman syndrome (UBE3A)
  • Chromosome 5q14.3 deletion syndrome (MEF2C)
  • Epileptic encephalopathy, early infantile, 1 (ARX)
  • Epileptic encephalopathy, early infantile, 11 (SCN2A)
  • Epileptic encephalopathy, early infantile, 12 (PLCB1)
  • Epileptic encephalopathy, early infantile, 13 (SCN8A)
  • Epileptic encephalopathy, early infantile, 14 (KCNT1)
  • Epileptic encephalopathy, early infantile, 15 (ST3GAL3)
  • Epileptic encephalopathy, early infantile, 16 (TBC1D24)
  • Epileptic encephalopathy, early infantile, 17 (GNAO1)
  • Epileptic encephalopathy, early infantile, 18 (SZT2)
  • Epileptic encephalopathy, early infantile, 19 (GABRA1)
  • Epileptic encephalopathy, early infantile, 2 (CDKL5)
  • Epileptic encephalopathy, early infantile, 23 (DOCK7)
  • Epileptic encephalopathy, early infantile, 24 (HCN1)
  • Epileptic encephalopathy, early infantile, 25 (SLC13A5)
  • Epileptic encephalopathy, early infantile, 26 (KCNB1)
  • Epileptic encephalopathy, early infantile, 27 (GRIN2B)
  • Epileptic encephalopathy, early infantile, 28 (WWOX)
  • Epileptic encephalopathy, early infantile, 3 (SLC25A22)
  • Epileptic encephalopathy, early infantile, 31 (DNM1)
  • Epileptic encephalopathy, early infantile, 32 (KCNA2)
  • Epileptic encephalopathy, early infantile, 33 (EEF1A2)
  • Epileptic encephalopathy, early infantile, 34 (SLC12A5)
  • Epileptic encephalopathy, early infantile, 35 (ITPA)
  • Epileptic encephalopathy, early infantile, 37 (FRRS1L)
  • Epileptic encephalopathy, early infantile, 39 /SLC25A12)
  • Epileptic encephalopathy, early infantile, 4 (STXBP1)
  • Epileptic encephalopathy, early infantile, 41 (SLC1A2)
  • Epileptic encephalopathy, early infantile, 43 (GABRB3)
  • Epileptic encephalopathy, early infantile, 49 (DENND5A)
  • Epileptic encephalopathy, early infantile, 5 (SPTAN1)
  • Epileptic encephalopathy, early infantile, 51 (MDH2)
  • Epileptic encephalopathy, early infantile, 52 (SCN1B)
  • Epileptic encephalopathy, early infantile, 53 (SYNJ1)
  • Epileptic encephalopathy, early infantile, 54 (HNRNPU)
  • Epileptic encephalopathy, early infantile, 58 (NTRK2)
  • Epileptic encephalopathy, early infantile, 59 (GABBR2)
  • Epileptic encephalopathy, early infantile, 6 [Dravet syndrome] (SCN1A)
  • Epileptic encephalopathy, early infantile, 60 (CNPY3)
  • Epileptic encephalopathy, early infantile, 62 (SCN3A)
  • Epileptic encephalopathy, early infantile, 67 (CUX2)
  • Epileptic encephalopathy, early infantile, 68 (TRAK1)
  • Epileptic encephalopathy, early infantile, 7 (KCNQ2)
  • Epileptic encephalopathy, early infantile, 70 (PHACTR1)
  • Epileptic encephalopathy, early infantile, 74 (GABRG2)
  • Epileptic encephalopathy, early infantile, 75 (PARS2)
  • Epileptic encephalopathy, early infantile, 77 (PIGQ)
  • Epileptic encephalopathy, early infantile, 78 (GABRA2)
  • Epileptic encephalopathy, early infantile, 9 (PCDH19)
  • Mental retardation, AD 5 (SYNGAP1)
  • Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations (MEF2C)
  • Mowat-Wilson syndrome (ZEB2)
  • Neurodegeneration with brain iron accumulation 5 (WDR45)
  • Neurodevelopmental disorder with involuntary movements (GNAO1)
  • Neurodevelopmental disorder with poor language + loss of hand skills (GABBR2)
  • Partington syndrome (ARX)
  • Proud syndrome (ARX)
  • Rett syndrome (MECP2)
  • Rett syndrome, atypical (MECP2)
  • Rett syndrome, congenital variant (FOXG1)
  • Rett syndrome, preserved speech variant (MECP2)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AD und/oder AR
  • AD und/oder Ass
  • AD und/oder Dig
  • AD und/oder Mult
  • AD und/oder Mult und/oder SMu
  • AR
  • XL
  • XLD
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
F84.2

Bioinformatik und klinische Interpretation

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