English
Klinische FragestellungKearns-Sayre-Syndrom, Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Kearns-Sayre-Syndrom mit 3 Leitlinien-kuratierten "core-"Genen, 10 weiteren Leitlinien-kuratierten Genen sowie insgesamt 18 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
KP9877
Anzahl Loci
| Locus-Typ | Anzahl |
|---|---|
| Gen | 16 |
Untersuchte Sequenzlänge
19,6 kb (Core-/Core-canditate-Gene)
30,1 kb (Erweitertes Panel: inkl. additional genes)
30,1 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Untersuchungsmaterial
- EDTA-Blut (3-5 ml)
- Gewebeprobe
Diagnostische Hinweise
NGS +
[Sanger]
Loci
Gen
| Name | Exon-Länge (bp) | OMIM-G | Referenz-Seq. | Erbgang |
|---|---|---|---|---|
| DGUOK | 834 | NM_080916.3 | AR | |
| DNA2 | 3183 | NM_001080449.3 | AD | |
| MGME1 | 1035 | NM_052865.4 | AR | |
| OPA1 | 2883 | NM_015560.3 | AD, AR | |
| POLG | 3720 | NM_002693.3 | AR | |
| POLG2 | 1458 | NM_007215.4 | AD, AR | |
| RRM2B | 1272 | NM_015713.5 | AR | |
| SPG7 | 2388 | NM_003119.4 | AR, AD | |
| TK2 | 705 | NM_001172643.1 | AR | |
| TWNK | 2055 | NM_021830.5 | AD, AR | |
| AFG3L2 | 2394 | NM_006796.3 | AD, AR | |
| DMPK | 1920 | NM_001081563.2 | AD | |
| RNASEH1 | 869 | NM_002936.6 | AR | |
| SLC25A4 | 897 | NM_001151.4 | AD, AR | |
| TOP3A | 3006 | NM_004618.5 | AR | |
| TYMP | 1449 | NM_001953.5 | AR |
Infos zur Erkrankung
Klinischer Kommentar
Fast immer sporadisch, >80% der Patienten mit singulären mtDNA-Deletionen, seltener Duplikationen, häufig eine 4977 Bp-Deletion (typische Lokalisation, common deletion)
Synonyme
- Alias: CPEO with myopathy
- Alias: CPEO with ragged-red fibers
- Alias: Chronic Progressive External Ophthalmoplegia with myopathy
- Alias: Mitochondrial cytopathy
- Alias: Oculocraniosomatic syndrome
- Alias: Ophthalmoplegia, pigmentary degeneration of retina + cardiomyopathy
- Alias: Ophthalmoplegia, progressive external, with ragged-red fibers
- Alias: Ophthalmoplegia-plus syndrome
- Allelic: Perrault syndrome 5 (TWNK)
- Mitochondrial DNA depletion syndrome 1, MNGIE type (TYMP)
- Mitochondrial DNA depletion syndrome 11 (MGME1)
- Mitochondrial DNA depletion syndrome 16 [hepatic type] (POLG2)
- Mitochondrial DNA depletion syndrome 3 [hepatocerebral type] (DGUOK)
- Mitochondrial DNA depletion syndrome 4A [Alpers type] (POLG)
- Mitochondrial DNA depletion syndrome 4B [MNGIE type] (POLG)
- Mitochondrial DNA depletion syndrome 7 [hepatocerebral type] (TWNK)
- Mitochondrial DNA depletion syndrome 8A [encephalomyopathic type with renal tubulopathy] (RRM2B)
- Mitochondrial DNA depletion syndrome 8B [MNGIE type] (RRM2B)
- Mitochondrial recessive ataxia syndrome [includes SANDO + SCAE] (POLG)
- Myotonic dystrophy 1 (DMPK)
- Oculopharyngeal muscular dystrophy (PABPN1)
- Progressive external ophthalmoplegia with mitochondrial DNA deletions, AD 3 (TWNK)
- Progressive external ophthalmoplegia with mitochondrial DNA deletions, AR 2 (RNASEH1)
- Progressive external ophthalmoplegia with mitochondrial DNA deletions, AR 4 (DGUOK, POLG2)
- Progressive external ophthalmoplegia, AD 1 (POLG)
- Progressive external ophthalmoplegia, AR 1 (POLG)
- Proximal myopathy + ophthalmoplegia (MYH2)
- Spastic paraplegia 7, AR (SPG7)
Erbgänge, Vererbungsmuster etc.
- AD
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatik und klinische Interpretation
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