Mitochondrial nuclear genes comprehensive panel

Mitochondrial nuclear genes comprehensive panel

[174 genes]

TOURNAROUND TIME: 6 WEEKS

AARS2 ABCB7 ACAD9 ACAT1 ACO2 AFG3L2 AGK AIFM1 APOPT1 APTX
ATAD3A ATP5E BCS1L BOLA3 C12orf65 C19orf12 CARS2 CLPP COA3 COQ2
COQ4 COQ6 COQ8A (ADCK3) COQ8B (ADCK4) COQ9 COX10 COX14 COX15 COX20 COX6A1
COX6B1 COX8A CPS1 CYC1 CHCHD10 CHKB DARS2 DGUOK DLAT DLD
DNA2 DNAJC19 DNM1L EARS2 ECHS1 ELAC2 ETFA ETFB ETFDH ETHE1
FARS2 FASTKD2 FBXL4 FDX2 (FDX1L) FLAD1 FOXRED1 GFER GFM1 GLRX5 GTPBP3
HADHA HADHB HARS2 HIBCH HSD17B10 IBA57 ISCA2 ISCU KIF5A LARS2
LIAS LRPPRC LYRM4 LYRM7 MARS2 MFF MGME1 MIPEP MPC1 MPV17
MRPS16 MRPS22 MTFMT MTO1 MTPAP NADK2 NARS2 NDUFA1 NDUFA10 NDUFA11
NDUFA12 NDUFA2 NDUFA8 NDUFA9 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF6
NDUFB11 NDUFB3 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8
NDUFV1 NDUFV2 NFU1 NUBPL OPA1 OPA3 PDHA1 PDHB PDHX PDP1
PDSS1 PDSS2 PET100 PNPLA8 PNPT1 POLG POLG2 PUS1 RARS2 RMND1
RNASEH1 RRM2B SCO1 SCO2 SDHA SDHAF1 SERAC1 SLC19A3 SLC25A1 SLC25A12
SLC25A19 SLC25A20 SLC25A22 SLC25A26 SLC25A3 SLC25A4 SUCLA2 SUCLG1 SURF1 TACO1
TARS2 TAZ TFAM TIMM8A TK2 TMEM126A TMEM126B TMEM70 TRMT10C TRMT5
TRMU TRNT1 TSFM TTC19 TUFM TWNK (C10orf2) TXN2 TYMP UQCRB UQCRC2
UQCRQ VARS2 YARS2 YME1L1
AARS2 ABCB7 ACAD9 ACAT1
ACO2 AFG3L2 AGK AIFM1
APOPT1 APTX ATAD3A ATP5E
BCS1L BOLA3 C12orf65 C19orf12
CARS2 CLPP COA3 COQ2
COQ4 COQ6 COQ8A (ADCK3) COQ8B (ADCK4)
COQ9 COX10 COX14 COX15
COX20 COX6A1 COX6B1 COX8A
CPS1 CYC1 CHCHD10 CHKB
DARS2 DGUOK DLAT DLD
DNA2 DNAJC19 DNM1L EARS2
ECHS1 ELAC2 ETFA ETFB
ETFDH ETHE1 FARS2 FASTKD2
FBXL4 FDX2 (FDX1L) FLAD1 FOXRED1
GFER GFM1 GLRX5 GTPBP3
HADHA HADHB HARS2 HIBCH
HSD17B10 IBA57 ISCA2 ISCU
KIF5A LARS2 LIAS LRPPRC
LYRM4 LYRM7 MARS2 MFF
MGME1 MIPEP MPC1 MPV17
MRPS16 MRPS22 MTFMT MTO1
MTPAP NADK2 NARS2 NDUFA1
NDUFA10 NDUFA11 NDUFA12 NDUFA2
NDUFA8 NDUFA9 NDUFAF1 NDUFAF2
NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF6
NDUFB11 NDUFB3 NDUFB9 NDUFS1
NDUFS2 NDUFS3 NDUFS4 NDUFS6
NDUFS7 NDUFS8 NDUFV1 NDUFV2
NFU1 NUBPL OPA1 OPA3
PDHA1 PDHB PDHX PDP1
PDSS1 PDSS2 PET100 PNPLA8
PNPT1 POLG POLG2 PUS1
RARS2 RMND1 RNASEH1 RRM2B
SCO1 SCO2 SDHA SDHAF1
SERAC1 SLC19A3 SLC25A1 SLC25A12
SLC25A19 SLC25A20 SLC25A22 SLC25A26
SLC25A3 SLC25A4 SUCLA2 SUCLG1
SURF1 TACO1 TARS2 TAZ
TFAM TIMM8A TK2 TMEM126A
TMEM126B TMEM70 TRMT10C TRMT5
TRMU TRNT1 TSFM TTC19
TUFM TWNK (C10orf2) TXN2 TYMP
UQCRB UQCRC2 UQCRQ VARS2
YARS2 YME1L1
RELATED PHENOTYPES
Ataxia and sideroblastic anemia ABCB7
Optic atrophy and cerebellar-retinal degeneration ACO2
Spinocerebellar ataxia AFG3L2
Sengers syndrome (cardiomyopathy, acidosis, hypotonia) AGK
Harel-Yoon syndrome (psychomotor retardation, hypotonia, spasticity, neuropathy) ATAD3A
Spastic paraplegia – Neurodegeneration with brain iron accumulation syndromes (NBIAS) C19orf12 and GLRX5
Perrault syndrome (deafness) CLLP and HARS2
Congenital muscular dystrophy with mtDNA depletion CHKB
Nephrotic syndrome COQ8B (ADCK4)
Aciduria metilglutacónica (ataxia, miocardiopatía dilatada) DNAJC19
Glutaric aciduria type 2 ADAR, IFIH1, RNASEH2B
Ethylmalonic encephalopathy ETHE1
Methylglutaconic aciduria (ataxia, dilated cardiomyopathy) ETFDH
Trifunctional protein (TFP) deficiency: cholestasis, myopathy, rhabdomyolysis HADHA y HADHB
Alpers-Huttenlocher syndrome (progressive neurodegeneration with liver disease) POLG
Pontocerebellar hypoplasia RARS2
Thiamine-responsive encephalopathy (mitochondrial-like) SLC19A3 and SLC25A19
Glutaric aciduria (corpus callosum agenesis, optic nerve atrophy) SLC25A1
Mohr-Tranebjaerg syndrome (deafness-dystonia-optic neuropathy) TIMM8A
Mitochondrial neurogastrointestinal encephalopathy (MNGIE) TYMP
  • Mitochondrial disorders are overall the most common group of inherited metabolic diseases, and they are among the most frequent hereditary neurological diseases.

    They are clinically heterogeneous, can occur at any age, and generally manifest with a wide array of clinical symptoms, usually being defined as multisystem diseases. Some mitochondrial disorders can be grouped into specific syndromes such as Leigh syndrome (subacute necrotizing encephalomyelopathy), MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes), or Alpers-Huttenlocher syndrome. Diagnosis is usually based on clinical criteria, as well as on biochemical and histochemical analysis of biopsies. Genetic study contributes to the improved clinical and molecular characterization of these patients and allows providing adequate genetic advice for the individuals and their families.

    The prevalence of childhood-onset mitochondrial diseases is 5-15/100 000 individuals (Gorman et al., 2014). The most common

    form of presentation is Leigh syndrome (2.5/100 000). The prevalence in adults is estimated in 9.6/100 000 (due to mtDNA mutations) and 2.9/100 000 (due to mutations in nuclear genes).

    The mitochondrial defect can be caused by mutations in nuclear DNA (nDNA) or mitochondrial DNA (mtDNA) genes. With regard to genetic suspicion, it is worth noting that 80% of mitochondrial diseases in adults are due to pathogenic variants in mtDNA; however, these variants only account for 20%-25% of childhood-onset cases (in which nuclear genes have a greater importance) (Gorman et al., 2014).

    We have developed a selection of specific panels for the study of mitochondrial diseases based on the main biochemical findings, as well as a core panel for the study of nuclear gene-encoded Leigh syndrome, with a comprehensive panel including 174 known genes for mitochondrial diseases.

    REFERENCES
    1. Gorman GS, Chinnery PF, DiMauro S, Hirano M, Koga Y, McFarland R, Suomalainen A, Thorburn DR, Zeviani M, Turnbull DM. Mitochondrial diseases. Nat Rev Dis Primers. 2016 Oct 20;2:16080.

 

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VARIANT CLASSIFICATION
Variant classification and clinical usefulness criteria

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