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Klinische FragestellungRett-like-Syndrom, Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für "Rett-like"-Syndrom mit 1 Leitlinien-kuratierten "core"-Gen, 9 "core candidate"-Genen bzw. zusammen genommen 56 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
RP0700
Anzahl Gene
56 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
24,3 kb (Core-/Core-canditate-Gene)
153,9 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
ARX1689NM_139058.3XL
CDKL53093NM_003159.3XL
FOXG11470NM_005249.5AD
MECP21461NM_004992.4XL
MEF2C1422NM_002397.5AD
SCN2A6018NM_021007.3AD
STXBP11812NM_003165.6AD, AR
UBE3A2559NM_130838.4AD
WDR451086NM_007075.4XL
ZEB23645NM_014795.4AD
CNPY3837NM_006586.5AR
CUX24461NM_015267.4AD
DENND5A3864NM_015213.4AR
DNM12595NM_004408.4AD
DOCK76390NM_001271999.2AR
EEF1A21392NM_001958.5AD
FRRS1L1035NM_014334.4AR
GABBR22826NM_005458.8AD
GABRA11371NM_000806.5AD
GABRA21356NM_001114175.3AD
GABRB31422NM_000814.6AD
GABRG21404NM_000816.3AD
GNAO11065NM_020988.3AD
GRIN2B4455NM_000834.5AD
HCN12673NM_021072.4AD
HNRNPU2478NM_031844.3AD
ITPA585NM_033453.4AR
KCNA21500NM_004974.4AD
KCNB12577NM_004975.4AD
KCNQ22619NM_172107.4AD
KCNT13708NM_020822.3AD
MDH21017NM_005918.4AR
NTRK22517NM_006180.6AD
PARS21428NM_152268.4AR
PCDH193447NM_001184880.2XL
PHACTR11743NM_001242648.4AD
PIGQ1746NM_004204.5AR
PLCB13651NM_015192.4AR
SCN1A6030NM_001165963.4AD
SCN1B657NM_001037.5AD, AR
SCN3A6003NM_006922.4AD
SCN8A5943NM_014191.4AD
SLC12A53351NM_020708.5AD, AR
SLC13A51707NM_177550.5AR
SLC1A21725NM_004171.4AD
SLC25A122037NM_003705.5AR
SLC25A22972NM_024698.6AR, AD
SPTAN17434NM_001130438.3AD
ST3GAL31128NM_006279.5AR
SYNGAP14032NM_006772.3AD
SYNJ14839NM_003895.3AR
SZT210128NM_015284.4AR
TBC1D241680NM_001199107.2AR
TRAK12862NM_001042646.3AR
WASF11688NM_003931.3AD
WWOX1245NM_016373.4AR

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
  • AR
  • XL
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatik und klinische Interpretation

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