MTDPS7
MCID: MTC054
MIFTS: 44

Mitochondrial Dna Depletion Syndrome 7 (MTDPS7)

Categories: Bone diseases, Cardiovascular diseases, Ear diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Mitochondrial Dna Depletion Syndrome 7

MalaCards integrated aliases for Mitochondrial Dna Depletion Syndrome 7:

Name: Mitochondrial Dna Depletion Syndrome 7 57 12 24 75 29 13 6 15
Ohaha Syndrome 57 12 53 25 59 75
Iosca 57 24 53 25 59 75
Infantile Onset Spinocerebellar Ataxia 12 53 59 44 73
Infantile-Onset Spinocerebellar Ataxia 24 25 29
Ophthalmoplegia-Hypotonia-Ataxia-Hypoacusis-Athetosis Syndrome 53 59
Ophthalmoplegia, Hypotonia, Ataxia, Hypacusis, and Athetosis 53 25
Spinocerebellar Ataxia Infantile with Sensory Neuropathy 53 75
Spinocerebellar Ataxia 8 75 73
Mtdps7 57 75
Ophthalmoplegia, Hypotonia, Ataxia, Hypoacusis, and Athetosis 57
Ophthalmoplegia - Hypotonia - Ataxia - Hypoacusis - Athetosis 53
Spinocerebellar Ataxia, Infantile, with Sensory Neuropathy 57
Mitochondrial Dna Depletion Syndrome 7 Hepatocerebral Type 75
Ophthalmoplegia Hypotonia Ataxia Hypoacusis and Athetosis 75
Spinocerebellar Ataxia 8, Formerly; Sca8, Formerly 57
Spinocerebellar Ataxia, Infantile-Onset; Iosca 57
Mitochondrial Dna Depletion Syndrome , Type 7 40
Pure Spinocerebellar Ataxia Japanese Type 75
Spinocerebellar Ataxia, Infantile-Onset 57
Spinocerebellar Ataxia Infantile-Onset 75
Spinocerebellar Ataxia 8, Formerly 57
Sca4 Pure Japanese Type 75
Sca8, Formerly 57
Sca8 75

Characteristics:

Orphanet epidemiological data:

59
infantile onset spinocerebellar ataxia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy; Age of death: adolescent,early childhood,infantile,late childhood,young Adult;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset 6 to 18 months
some features occur in adolescence, including migraine, seizures, and psychiatric disorders
severe epilepsy may lead to early death
carrier frequency in finland is 1 in 230


HPO:

32
mitochondrial dna depletion syndrome 7:
Onset and clinical course progressive
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mitochondrial Dna Depletion Syndrome 7

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1186Disease definitionInfantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families.EpidemiologySo far, 24 cases have been reported. In Finland, IOSCA has a population carrier frequency of more than 1:230.Clinical descriptionIOSCA is characterized by very early ataxia, athetosis and reduced tendon reflexes (between 9 and 18 months of age). Ophthalmoplegia and sensorineural hearing loss are diagnosed in childhood. Other features, such as optic atrophy and sensory neuropathy with progressive loss of myelinated fibers in the sural nerve, appear later in the disease course. Hypogonadism may occur in females. Some patients show intellectual deficit. Epilepsy is a late manifestation and seizures may be life-threatening.EtiologyIOSCA is caused by mutations in the C10orf2 gene (10q24) encoding the mitochondrial helicase Twinkle. The c.1523A>G (p.Y508C) causative mutation has been postulated to be a founder mutation. Twenty-one of the reported patients were homozygous for this mutation, and three were compound heterozygotes: c.952G>A/c.1523A>G (two patients) and c.1523A>G/c.1287C>T (one patient). The mutations lead to mtDNA depletion in the brain and the liver, but not in the muscle.Diagnostic methodsThe diagnosis is based on clinical and pathological findings. Studies of sural nerve biopsies reveal an early and rapidly progressive axonal neuropathy. Neuroimaging studies revealing cerebellar atrophy and genetic testing for the c.1523A>G mutation may also help to confirm the diagnosis.Differential diagnosisDifferential diagnoses include early-onset cerebellar ataxias with sensory axonal neuropathy and epileptic encephalopathy, mitochondrial disorders with axonal neuropathy (such as Friedreich ataxia), progressive external ophthalmoplegia (PEO), juvenile- or adult-onset mitochondrial recessive ataxia syndrome (MIRAS), and POLG-related disorders (see theseterms).Antenatal diagnosisPrenatal testing may be available for families in which the disease-causing mutations have already been identified.Genetic counselingIOSCA is inherited in an autosomal recessive manner. Genetic counseling is an important clinical tool for preventing new cases, especially for couples with an affected first child: the risk of having an affected child in further pregnancies is 25%.Management and treatmentIOSCA patients are often managed by a multidisciplinary team, involving a pediatrician, neurologist, psychiatrist, orthopedic surgeon, physical and occupational therapists, genetic counselor, and social worker. Treatment is symptomatic and may include: (1) hearing aids, speech therapy and sign language for deafness; (2) physical therapy, orthotic devices and orthopedic surgery for sensory axonal neuropathy; (3) walking aids, a wheelchair, physiotherapy and occupational therapy for ataxia; (4) antiepileptic drugs for seizures and (5) antipsychotics and antidepressants for psychiatric symptoms.PrognosisPrognosis is unfavorable. Patients are wheelchair-bound by adolescence. Early death is common due to severe seizures. The clinical course seems to be more rapid and severe (with death during infancy) in c.952G>A/ c.1523A>G compound heterozygotes.Visit the Orphanet disease page for more resources.

MalaCards based summary : Mitochondrial Dna Depletion Syndrome 7, also known as ohaha syndrome, is related to spinocerebellar ataxia 8 and spinocerebellar ataxia 31, and has symptoms including ataxia, muscle weakness and tremor. An important gene associated with Mitochondrial Dna Depletion Syndrome 7 is TWNK (Twinkle MtDNA Helicase). Affiliated tissues include brain, liver and testes, and related phenotypes are ataxia and hearing impairment

Disease Ontology : 12 A mitochondrial metabolism disease that is characterized by progressive ataxia, hypotonia, hyporeflexia, athetosis and sensory impairment and has material basis in autosomal recessive homozygous or compound heterozygous mutation in the C10ORF2 gene, which encodes the twinkle and twinky proteins, on chromosome 10q24.

Genetics Home Reference : 25 Infantile-onset spinocerebellar ataxia (IOSCA) is a progressive disorder that affects the nervous system. Babies with IOSCA develop normally during the first year of life. During early childhood, however, they begin experiencing difficulty coordinating movements (ataxia); very weak muscle tone (hypotonia); involuntary writhing movements of the limbs (athetosis); and decreased reflexes. By their teenage years affected individuals require wheelchair assistance.

OMIM : 57 Mitochondrial DNA depletion syndrome-7 is an autosomal recessive severe neurodegenerative disorder characterized primarily by hypotonia, ataxia, ophthalmoplegia, hearing loss, seizures, and sensory axonal neuropathy. Although originally classified as a form of spinocerebellar ataxia (see, e.g., SCA1, 164400) (Koskinen et al., 1994), it has been reclassified as a mitochondrial DNA depletion syndrome (Hakonen et al., 2008) based on the finding of mtDNA depletion in the brain and liver of affected individuals. For a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 (603041). (271245)

UniProtKB/Swiss-Prot : 75 Mitochondrial DNA depletion syndrome 7: A severe disease associated with mitochondrial dysfunction. Some patients are affected by progressive atrophy of the cerebellum, brain stem, the spinal cord, and sensory axonal neuropathy. Clinical features include hypotonia, athetosis, ataxia, ophthalmoplegia, sensorineural hearing deficit, sensory axonal neuropathy, epileptic encephalopathy and female hypogonadism. In some individuals liver dysfunction and multi-organ failure is present.

GeneReviews: NBK3795

Related Diseases for Mitochondrial Dna Depletion Syndrome 7

Diseases in the Mitochondrial Dna Deletion Syndromes family:

Mitochondrial Dna Depletion Syndrome 4a Mitochondrial Dna Depletion Syndrome 9
Mitochondrial Dna Depletion Syndrome 3 Mitochondrial Dna Depletion Syndrome 6
Mitochondrial Dna Depletion Syndrome 7 Mitochondrial Dna Depletion Syndrome 1
Mitochondrial Dna Depletion Syndrome 2 Mitochondrial Dna Depletion Syndrome 5
Mitochondrial Dna Depletion Syndrome 8a Mitochondrial Dna Depletion Syndrome 4b
Mitochondrial Dna Depletion Syndrome 11 Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive
Mitochondrial Dna Depletion Syndrome 13 Mitochondrial Dna Depletion Syndrome 14
Mitochondrial Dna Depletion Syndrome 15 Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant
Mitochondrial Dna Depletion Syndrome 12a Mitochondrial Dna Depletion Syndrome 12b
Mitochondrial Dna Depletion Syndrome Rrm2b-Related Mitochondrial Dna Depletion Syndrome

Diseases related to Mitochondrial Dna Depletion Syndrome 7 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 39)
# Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia 8 12.7
2 spinocerebellar ataxia 31 11.5
3 spinocerebellar ataxia 12 11.4
4 spinocerebellar ataxia, autosomal recessive 8 11.4
5 spinocerebellar ataxia, autosomal recessive 14 11.3
6 anemia, sideroblastic, and spinocerebellar ataxia 11.2
7 autosomal dominant cerebellar ataxia 10.3
8 spinocerebellar ataxia 2 10.2
9 sensory peripheral neuropathy 10.2
10 neuropathy 10.2
11 spinocerebellar ataxia 5 10.1
12 polyneuropathy 10.1
13 hypogonadism 10.1
14 myopathy 10.1
15 ataxia neuropathy spectrum 10.1 MRPL43 TWNK
16 perrault syndrome 5 10.1 MRPL43 TWNK
17 perrault syndrome 10.1 MRPL43 TWNK
18 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 10.1 MRPL43 TWNK
19 chronic progressive external ophthalmoplegia 10.0 SLC25A4 TWNK
20 autosomal recessive cerebellar ataxia 10.0 MRPL43 TWNK
21 ocular motility disease 10.0 SLC25A4 TWNK
22 axonal neuropathy 10.0 SLC25A4 TWNK
23 mitochondrial metabolism disease 9.9 SLC25A4 TWNK
24 amyotrophic lateral sclerosis 1 9.9
25 machado-joseph disease 9.9
26 multiple system atrophy 1 9.9
27 parkinson disease, late-onset 9.9
28 fragile x tremor/ataxia syndrome 9.9
29 ataxia and polyneuropathy, adult-onset 9.9
30 aceruloplasminemia 9.9
31 spinocerebellar ataxia 36 9.9
32 lateral sclerosis 9.9
33 corticobasal degeneration 9.9
34 degos 'en cocarde' erythrokeratoderma 9.9
35 facioscapulohumeral muscular dystrophy 1 9.9 PDLIM3 SLC25A4
36 autosomal dominant progressive external ophthalmoplegia 9.9 MRPL43 SLC25A4 TWNK
37 kearns-sayre syndrome 9.8 SACS SLC25A4 TWNK
38 muscular disease 9.8 SLC25A4 TWNK
39 hypertrophic cardiomyopathy 9.8 PDLIM3 SLC25A4

Graphical network of the top 20 diseases related to Mitochondrial Dna Depletion Syndrome 7:



Diseases related to Mitochondrial Dna Depletion Syndrome 7

Symptoms & Phenotypes for Mitochondrial Dna Depletion Syndrome 7

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
optic atrophy
ophthalmoplegia
poor eye contact
abnormal eye movements

Muscle Soft Tissue:
muscle weakness
hypotonia
decreased complex i activity (rare)

Neurologic Behavioral Psychiatric Manifestations:
psychosis
mood disorders
somnolence
uncontrolled rage

Abdomen Liver:
mitochondrial dna depletion

Endocrine Features:
hypergonadotrophic hypogonadism (in females in adolescence)

Neurologic Central Nervous System:
ataxia
status epilepticus
clumsiness
cerebellar atrophy
athetosis
more
Neurologic Peripheral Nervous System:
sensory axonal neuropathy
loss of deep tendon reflexes

Head And Neck Ears:
deafness
loss of vestibular caloric response

Genitourinary Internal Genitalia Female:
hypergonadotrophic hypogonadism (in females in adolescence)

Laboratory Abnormalities:
abnormal liver enzymes (rare)


Clinical features from OMIM:

271245

Human phenotypes related to Mitochondrial Dna Depletion Syndrome 7:

59 32 (show all 31)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001251
2 hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000365
3 optic atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0000648
4 reduced tendon reflexes 59 32 hallmark (90%) Very frequent (99-80%) HP:0001315
5 ophthalmoplegia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000602
6 abnormality of the autonomic nervous system 59 32 hallmark (90%) Very frequent (99-80%) HP:0002270
7 nystagmus 32 HP:0000639
8 intellectual disability 32 HP:0001249
9 muscular hypotonia 32 HP:0001252
10 muscle weakness 32 HP:0001324
11 abnormality of movement 59 Very frequent (99-80%)
12 specific learning disability 32 HP:0001328
13 sensory axonal neuropathy 32 HP:0003390
14 migraine 32 HP:0002076
15 cerebral cortical atrophy 32 HP:0002120
16 psychosis 32 HP:0000709
17 hypergonadotropic hypogonadism 32 HP:0000815
18 status epilepticus 32 HP:0002133
19 areflexia 32 HP:0001284
20 clumsiness 32 HP:0002312
21 cerebellar atrophy 32 HP:0001272
22 generalized hypotonia 32 HP:0001290
23 encephalopathy 32 HP:0001298
24 atrophy/degeneration affecting the brainstem 32 HP:0007366
25 athetosis 32 HP:0002305
26 excessive daytime somnolence 32 HP:0001262
27 epileptic encephalopathy 32 HP:0200134
28 poor eye contact 32 HP:0000817
29 loss of ability to walk 32 HP:0006957
30 epilepsia partialis continua 32 HP:0012847
31 elevated hepatic transaminase 32 occasional (7.5%) HP:0002910

UMLS symptoms related to Mitochondrial Dna Depletion Syndrome 7:


ataxia, muscle weakness, tremor, abnormal pyramidal signs, clumsiness, ophthalmoplegia, athetosis, muscle spasticity

Drugs & Therapeutics for Mitochondrial Dna Depletion Syndrome 7

Search Clinical Trials , NIH Clinical Center for Mitochondrial Dna Depletion Syndrome 7

Cochrane evidence based reviews: infantile onset spinocerebellar ataxia

Genetic Tests for Mitochondrial Dna Depletion Syndrome 7

Genetic tests related to Mitochondrial Dna Depletion Syndrome 7:

# Genetic test Affiliating Genes
1 Mitochondrial Dna Depletion Syndrome 7 (hepatocerebral Type) 29 TWNK
2 Infantile-Onset Spinocerebellar Ataxia 29

Anatomical Context for Mitochondrial Dna Depletion Syndrome 7

MalaCards organs/tissues related to Mitochondrial Dna Depletion Syndrome 7:

41
Brain, Liver, Testes, Spinal Cord, Cerebellum, Eye, Bone

Publications for Mitochondrial Dna Depletion Syndrome 7

Articles related to Mitochondrial Dna Depletion Syndrome 7:

(show all 19)
# Title Authors Year
1
Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive disease. ( 27551684 )
2016
2
Sporadic infantile-onset spinocerebellar ataxia caused by missense mutations of the inositol 1,4,5-triphosphate receptor type 1 gene. ( 25794864 )
2015
3
Recessive C10orf2 mutations in a family with infantile-onset spinocerebellar ataxia, sensorimotor polyneuropathy, and myopathy. ( 24816431 )
2014
4
Infantile Onset Spinocerebellar Ataxia 2 (SCA2): A Clinical Report With Review of Previous Cases. ( 24300164 )
2014
5
Germ-line CAG repeat instability causes extreme CAG repeat expansion with infantile-onset spinocerebellar ataxia type 2. ( 23047744 )
2013
6
Case of infantile onset spinocerebellar ataxia type 5. ( 22914369 )
2013
7
Novel Autosomal Recessive c10orf2 Mutations Causing Infantile-Onset Spinocerebellar Ataxia. ( 22928142 )
2012
8
Identification of a novel Twinkle mutation in a family with infantile onset spinocerebellar ataxia by whole exome sequencing. ( 22353293 )
2012
9
Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion. ( 18775955 )
2008
10
Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky. ( 16135556 )
2005
11
cDNA cloning, expression profile and genomic structure of a novel human transcript on chromosome 10q24, and its analyses as a candidate gene for infantile onset spinocerebellar ataxia. ( 12459258 )
2002
12
Infantile onset spinocerebellar ataxia with sensory neuropathy (IOSCA): neuropathological features. ( 9879682 )
1998
13
Tracing an ancestral mutation: genealogical and haplotype analysis of the infantile onset spinocerebellar ataxia locus. ( 8889554 )
1996
14
Primary hypogonadism in females with infantile onset spinocerebellar ataxia. ( 8552218 )
1995
15
Infantile-onset spinocerebellar ataxia: MR and CT findings. ( 7484627 )
1995
16
Infantile onset spinocerebellar ataxia represents an allelic disease distinct from other hereditary ataxias. ( 7877879 )
1994
17
Infantile onset spinocerebellar ataxia with sensory neuropathy: a new inherited disease. ( 8133312 )
1994
18
Sensory neuropathy in infantile onset spinocerebellar ataxia (IOSCA). ( 8159181 )
1994
19
Infantile-Onset Spinocerebellar Ataxia ( 20301746 )
1993

Variations for Mitochondrial Dna Depletion Syndrome 7

UniProtKB/Swiss-Prot genetic disease variations for Mitochondrial Dna Depletion Syndrome 7:

75
# Symbol AA change Variation ID SNP ID
1 TWNK p.Thr457Ile VAR_039045 rs80356544
2 TWNK p.Tyr508Cys VAR_043797 rs80356540
3 TWNK p.Ala318Thr VAR_065104 rs80356542
4 TWNK p.Leu360Gly VAR_065107
5 TWNK p.Leu456Val VAR_067722 rs386834145

ClinVar genetic disease variations for Mitochondrial Dna Depletion Syndrome 7:

6 (show all 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 TWNK NM_021830.4(TWNK): c.1370C> T (p.Thr457Ile) single nucleotide variant Pathogenic rs80356544 GRCh37 Chromosome 10, 102749527: 102749527
2 TWNK NM_021830.4(TWNK): c.1370C> T (p.Thr457Ile) single nucleotide variant Pathogenic rs80356544 GRCh38 Chromosome 10, 100989770: 100989770
3 TWNK NM_021830.4(TWNK): c.1523A> G (p.Tyr508Cys) single nucleotide variant Pathogenic rs80356540 GRCh37 Chromosome 10, 102750231: 102750231
4 TWNK NM_021830.4(TWNK): c.1523A> G (p.Tyr508Cys) single nucleotide variant Pathogenic rs80356540 GRCh38 Chromosome 10, 100990474: 100990474
5 TWNK NM_021830.4(TWNK): c.952G> A (p.Ala318Thr) single nucleotide variant Pathogenic rs80356542 GRCh37 Chromosome 10, 102748919: 102748919
6 TWNK NM_021830.4(TWNK): c.952G> A (p.Ala318Thr) single nucleotide variant Pathogenic rs80356542 GRCh38 Chromosome 10, 100989162: 100989162
7 TWNK NM_021830.4(TWNK): c.1287C> T (p.Ala429=) single nucleotide variant Pathogenic rs80356541 GRCh37 Chromosome 10, 102749444: 102749444
8 TWNK NM_021830.4(TWNK): c.1287C> T (p.Ala429=) single nucleotide variant Pathogenic rs80356541 GRCh38 Chromosome 10, 100989687: 100989687
9 TWNK NM_021830.4(TWNK): c.1366C> G (p.Leu456Val) single nucleotide variant Uncertain significance rs386834145 GRCh37 Chromosome 10, 102749523: 102749523
10 TWNK NM_021830.4(TWNK): c.1366C> G (p.Leu456Val) single nucleotide variant Uncertain significance rs386834145 GRCh38 Chromosome 10, 100989766: 100989766
11 TWNK NM_021830.4(TWNK): c.1387C> T (p.Arg463Trp) single nucleotide variant Likely pathogenic rs386834146 GRCh37 Chromosome 10, 102749544: 102749544
12 TWNK NM_021830.4(TWNK): c.1387C> T (p.Arg463Trp) single nucleotide variant Likely pathogenic rs386834146 GRCh38 Chromosome 10, 100989787: 100989787
13 TWNK NM_021830.4(TWNK): c.247C> T (p.Pro83Ser) single nucleotide variant Uncertain significance rs386834147 GRCh37 Chromosome 10, 102748214: 102748214
14 TWNK NM_021830.4(TWNK): c.247C> T (p.Pro83Ser) single nucleotide variant Uncertain significance rs386834147 GRCh38 Chromosome 10, 100988457: 100988457
15 TWNK NM_021830.4(TWNK): c.1196A> G (p.Asn399Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs863223921 GRCh37 Chromosome 10, 102749163: 102749163
16 TWNK NM_021830.4(TWNK): c.1196A> G (p.Asn399Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs863223921 GRCh38 Chromosome 10, 100989406: 100989406
17 TWNK NM_021830.4(TWNK): c.333delT (p.Leu112Serfs) deletion Pathogenic rs886037832 GRCh37 Chromosome 10, 102748300: 102748300
18 TWNK NM_021830.4(TWNK): c.333delT (p.Leu112Serfs) deletion Pathogenic rs886037832 GRCh38 Chromosome 10, 100988543: 100988543
19 TWNK NM_021830.4(TWNK): c.904C> T (p.Arg302Trp) single nucleotide variant Likely pathogenic rs374997012 GRCh37 Chromosome 10, 102748871: 102748871
20 TWNK NM_021830.4(TWNK): c.904C> T (p.Arg302Trp) single nucleotide variant Likely pathogenic rs374997012 GRCh38 Chromosome 10, 100989114: 100989114

Expression for Mitochondrial Dna Depletion Syndrome 7

Search GEO for disease gene expression data for Mitochondrial Dna Depletion Syndrome 7.

Pathways for Mitochondrial Dna Depletion Syndrome 7

GO Terms for Mitochondrial Dna Depletion Syndrome 7

Cellular components related to Mitochondrial Dna Depletion Syndrome 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.02 ATCAY MRPL43 SACS SLC25A4 TWNK

Sources for Mitochondrial Dna Depletion Syndrome 7

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