MCID: CRD179
MIFTS: 39

Ceroid Lipofuscinosis, Neuronal, 7

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases

Aliases & Classifications for Ceroid Lipofuscinosis, Neuronal, 7

MalaCards integrated aliases for Ceroid Lipofuscinosis, Neuronal, 7:

Name: Ceroid Lipofuscinosis, Neuronal, 7 57 75 13 73
Cln7 57 12 53 25 75
Neuronal Ceroid Lipofuscinosis 7 12 53 15
Cln7 Disease 53 25 59
Ceroid Lipofuscinosis Neuronal 7 29 6
Cln7 Disease, Late Infantile 53 25
Mfsd8-Related Neuronal Ceroid Lipofuscinosis 25
Lipofuscinosis, Ceroid, Neuronal, Type 7 40
Turkish Variant Late Infantile Ncl 75

Characteristics:

Orphanet epidemiological data:

59
cln7 disease
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
rapidly progressive disorder
onset in childhood (ages 1.5 to 7 years)
some patients show normal development until onset of disorder
patients often become wheelchair-bound
intracellular accumulation of material can occur in neuronal and nonneuronal cells
intracellular accumulation of material may not always be apparent


HPO:

32
ceroid lipofuscinosis, neuronal, 7:
Onset and clinical course rapidly progressive juvenile onset
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 610951
Disease Ontology 12 DOID:0110722
ICD10 33 E75.4
Orphanet 59 ORPHA228366
UMLS via Orphanet 74 C1838571
ICD10 via Orphanet 34 E75.4
MedGen 42 C1838571
MeSH 44 D009472
UMLS 73 C1838571

Summaries for Ceroid Lipofuscinosis, Neuronal, 7

NIH Rare Diseases : 53 Neuronal ceroid lipofuscinosis 7 (CLN7-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop in early childhood (average age 5 years) and may include loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (the loss of previously acquired skills). CLN7-NCL is caused by changes (mutations) in the MFSD8 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.

MalaCards based summary : Ceroid Lipofuscinosis, Neuronal, 7, also known as cln7, is related to ceroid lipofuscinosis, neuronal, 1 and neuronal ceroid lipofuscinosis, and has symptoms including ataxia and myoclonic seizures. An important gene associated with Ceroid Lipofuscinosis, Neuronal, 7 is MFSD8 (Major Facilitator Superfamily Domain Containing 8), and among its related pathways/superpathways is Lysosome. Related phenotypes are ataxia and eeg abnormality

Disease Ontology : 12 A neuronal ceroid lipofuscinosis that is characterized by late-infantile onset of symptoms (seizures or motor impairment followed by mental regression, myoclonus, speech impairment, loss of vision, and personality disorders) and has material basis in homozygous or compound heterozygous mutation in the MFSD8 gene on chromosome 4q28.

Genetics Home Reference : 25 CLN7 disease is an inherited disorder that primarily affects the nervous system. The signs and symptoms of this condition typically begin between ages 2 and 7. The initial features usually include recurrent seizures (epilepsy) and the loss of previously acquired skills (developmental regression). Affected children also develop muscle twitches (myoclonus), difficulty coordinating movements (ataxia), speech impairment, and vision loss. Mental functioning and motor skills (such as sitting and walking) decline with age. Individuals with CLN7 disease typically do not survive past their teens.

OMIM : 57 The neuronal ceroid lipofuscinoses (NCL, or CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally (summary by Mole et al., 2005). For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (256730). (610951)

UniProtKB/Swiss-Prot : 75 Ceroid lipofuscinosis, neuronal, 7: A form of neuronal ceroid lipofuscinosis with onset in early childhood. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. The lipopigment patterns observed most often in neuronal ceroid lipofuscinosis type 7 comprise mixed combinations of granular, curvilinear, fingerprint, and rectilinear profiles.

Related Diseases for Ceroid Lipofuscinosis, Neuronal, 7

Diseases in the Neuronal Ceroid Lipofuscinosis family:

Ceroid Lipofuscinosis, Neuronal, 4b, Autosomal Dominant Ceroid Lipofuscinosis, Neuronal, 3
Ceroid Lipofuscinosis, Neuronal, 4a, Autosomal Recessive Ceroid Lipofuscinosis, Neuronal, 2
Ceroid Lipofuscinosis, Neuronal, 1 Ceroid Lipofuscinosis, Neuronal, 5
Ceroid Lipofuscinosis, Neuronal, 8 Ceroid Lipofuscinosis, Neuronal, 6
Ceroid Lipofuscinosis, Neuronal, 9 Ceroid Lipofuscinosis, Neuronal, 10
Ceroid Lipofuscinosis, Neuronal, 7 Ceroid Lipofuscinosis, Neuronal, 11
Ceroid Lipofuscinosis, Neuronal, 13 Adult Neuronal Ceroid Lipofuscinosis

Diseases related to Ceroid Lipofuscinosis, Neuronal, 7 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 21)
# Related Disease Score Top Affiliating Genes
1 ceroid lipofuscinosis, neuronal, 1 28.0 CLN5 CLN6 CLN8 DNAJC5 MFSD8 PPT1
2 neuronal ceroid lipofuscinosis 26.2 CLN5 CLN6 CLN8 DNAJC5 MFSD8 PPT1
3 ceroid lipofuscinosis, neuronal, 8 11.4
4 neuronitis 10.2
5 visual pathway disease 9.9 CLN8 MFSD8
6 retinitis 9.9
7 retinal degeneration 9.9
8 visual cortex disease 9.8 CLN8 MFSD8
9 ceroid lipofuscinosis, neuronal, 3 9.2 CLN5 PPT1
10 ceroid lipofuscinosis, neuronal, 10 9.1 CLN5 CLN6 CLN8
11 cerebral atrophy 9.0 CLN6 CLN8 DNAJC5
12 adult neuronal ceroid lipofuscinosis 8.9 CLN6 DNAJC5 PPT1
13 ceroid lipofuscinosis, neuronal, 9 8.8 CLN5 CLN6 CLN8 MFSD8
14 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant 8.8 CLN5 CLN6 CLN8 MFSD8
15 ceroid lipofuscinosis, neuronal, 13 8.8 CLN5 CLN8 DNAJC5
16 lipid storage disease 8.7 CLN5 CLN6 CLN8 PPT1
17 ceroid storage disease 7.8 CLN5 CLN6 CLN8 DNAJC5 PPT1
18 ceroid lipofuscinosis, neuronal, 11 7.3 CLN5 CLN6 CLN8 DNAJC5 MFSD8 PPT1
19 visual epilepsy 7.3 CLN5 CLN6 CLN8 DNAJC5 MFSD8 PPT1
20 ceroid lipofuscinosis, neuronal, 2 7.3 CLN5 CLN6 CLN8 DNAJC5 MFSD8 PPT1
21 neuronal ceroid-lipofuscinoses 7.3 CLN5 CLN6 CLN8 DNAJC5 MFSD8 PPT1

Graphical network of the top 20 diseases related to Ceroid Lipofuscinosis, Neuronal, 7:



Diseases related to Ceroid Lipofuscinosis, Neuronal, 7

Symptoms & Phenotypes for Ceroid Lipofuscinosis, Neuronal, 7

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
ataxia
neurodegeneration
cerebellar atrophy
cerebral atrophy
seizures, refractory
more
Head And Neck Eyes:
optic atrophy
blindness
retinopathy
loss of vision, progressive


Clinical features from OMIM:

610951

Human phenotypes related to Ceroid Lipofuscinosis, Neuronal, 7:

32 (show all 15)
# Description HPO Frequency HPO Source Accession
1 ataxia 32 HP:0001251
2 eeg abnormality 32 HP:0002353
3 sleep disturbance 32 HP:0002360
4 global developmental delay 32 HP:0001263
5 delayed speech and language development 32 HP:0000750
6 optic atrophy 32 HP:0000648
7 blindness 32 HP:0000618
8 retinopathy 32 HP:0000488
9 generalized myoclonic seizures 32 HP:0002123
10 visual loss 32 HP:0000572
11 neurodegeneration 32 HP:0002180
12 mental deterioration 32 HP:0001268
13 cerebellar atrophy 32 HP:0001272
14 cerebral atrophy 32 HP:0002059
15 pigmentary retinopathy 32 HP:0000580

UMLS symptoms related to Ceroid Lipofuscinosis, Neuronal, 7:


ataxia, myoclonic seizures

MGI Mouse Phenotypes related to Ceroid Lipofuscinosis, Neuronal, 7:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.65 CLN6 CLN8 DNAJC5 MFSD8 PPT1
2 nervous system MP:0003631 9.63 CLN5 CLN6 CLN8 DNAJC5 MFSD8 PPT1
3 pigmentation MP:0001186 9.13 CLN8 MFSD8 PPT1
4 vision/eye MP:0005391 9.1 CLN5 CLN6 CLN8 DNAJC5 MFSD8 PPT1

Drugs & Therapeutics for Ceroid Lipofuscinosis, Neuronal, 7

Search Clinical Trials , NIH Clinical Center for Ceroid Lipofuscinosis, Neuronal, 7

Genetic Tests for Ceroid Lipofuscinosis, Neuronal, 7

Genetic tests related to Ceroid Lipofuscinosis, Neuronal, 7:

# Genetic test Affiliating Genes
1 Ceroid Lipofuscinosis Neuronal 7 29 MFSD8

Anatomical Context for Ceroid Lipofuscinosis, Neuronal, 7

Publications for Ceroid Lipofuscinosis, Neuronal, 7

Articles related to Ceroid Lipofuscinosis, Neuronal, 7:

# Title Authors Year
1
The Chihuahua dog: A new animal model for neuronal ceroid lipofuscinosis CLN7 disease? ( 26762174 )
2016
2
Gene disruption of Mfsd8 in mice provides the first animal model for CLN7 disease. ( 24423645 )
2014

Variations for Ceroid Lipofuscinosis, Neuronal, 7

UniProtKB/Swiss-Prot genetic disease variations for Ceroid Lipofuscinosis, Neuronal, 7:

75 (show all 15)
# Symbol AA change Variation ID SNP ID
1 MFSD8 p.Gly310Asp VAR_037177 rs118203975
2 MFSD8 p.Gly429Asp VAR_037180 rs118203976
3 MFSD8 p.Gly52Arg VAR_058427 rs779838200
4 MFSD8 p.Tyr121Cys VAR_058428 rs118203978
5 MFSD8 p.Arg139His VAR_058429 rs749704755
6 MFSD8 p.Ala157Pro VAR_058430
7 MFSD8 p.Thr294Lys VAR_058431 rs140948465
8 MFSD8 p.Pro447Leu VAR_058432
9 MFSD8 p.Arg465Trp VAR_058433
10 MFSD8 p.Thr160Ile VAR_066915
11 MFSD8 p.Thr160Asn VAR_066916
12 MFSD8 p.Thr458Lys VAR_066917
13 MFSD8 p.Arg465Gln VAR_066918
14 MFSD8 p.Met470Val VAR_066919 rs764549054
15 MFSD8 p.Pro412Leu VAR_072674 rs267607235

ClinVar genetic disease variations for Ceroid Lipofuscinosis, Neuronal, 7:

6
(show top 50) (show all 97)
# Gene Variation Type Significance SNP ID Assembly Location
1 MFSD8 NM_152778.2(MFSD8): c.929G> A (p.Gly310Asp) single nucleotide variant Pathogenic rs118203975 GRCh37 Chromosome 4, 128851907: 128851907
2 MFSD8 NM_152778.2(MFSD8): c.929G> A (p.Gly310Asp) single nucleotide variant Pathogenic rs118203975 GRCh38 Chromosome 4, 127930752: 127930752
3 MFSD8 NM_152778.2(MFSD8): c.1286G> A (p.Gly429Asp) single nucleotide variant Pathogenic rs118203976 GRCh37 Chromosome 4, 128842743: 128842743
4 MFSD8 NM_152778.2(MFSD8): c.1286G> A (p.Gly429Asp) single nucleotide variant Pathogenic rs118203976 GRCh38 Chromosome 4, 127921588: 127921588
5 MFSD8 NM_152778.2(MFSD8): c.894T> G (p.Tyr298Ter) single nucleotide variant Pathogenic rs118203977 GRCh37 Chromosome 4, 128851942: 128851942
6 MFSD8 NM_152778.2(MFSD8): c.894T> G (p.Tyr298Ter) single nucleotide variant Pathogenic rs118203977 GRCh38 Chromosome 4, 127930787: 127930787
7 MFSD8 NM_152778.2(MFSD8): c.1235C> T (p.Pro412Leu) single nucleotide variant Pathogenic rs267607235 GRCh37 Chromosome 4, 128842794: 128842794
8 MFSD8 NM_152778.2(MFSD8): c.1235C> T (p.Pro412Leu) single nucleotide variant Pathogenic rs267607235 GRCh38 Chromosome 4, 127921639: 127921639
9 MFSD8 NM_152778.2(MFSD8): c.881C> A (p.Thr294Lys) single nucleotide variant Likely pathogenic rs140948465 GRCh37 Chromosome 4, 128851955: 128851955
10 MFSD8 NM_152778.2(MFSD8): c.881C> A (p.Thr294Lys) single nucleotide variant Likely pathogenic rs140948465 GRCh38 Chromosome 4, 127930800: 127930800
11 MFSD8 MFSD8, 2-BP DEL/2-BP INS indel Pathogenic
12 MFSD8 NM_152778.2(MFSD8): c.754+2T> A single nucleotide variant Pathogenic rs587778809 GRCh37 Chromosome 4, 128859936: 128859936
13 MFSD8 NM_152778.2(MFSD8): c.754+2T> A single nucleotide variant Pathogenic rs587778809 GRCh38 Chromosome 4, 127938781: 127938781
14 MFSD8 NM_152778.2(MFSD8): c.1006G> C (p.Glu336Gln) single nucleotide variant Benign rs150418024 GRCh38 Chromosome 4, 127921956: 127921956
15 MFSD8 NM_152778.2(MFSD8): c.1006G> C (p.Glu336Gln) single nucleotide variant Benign rs150418024 GRCh37 Chromosome 4, 128843111: 128843111
16 MFSD8 NM_152778.2(MFSD8): c.1141G> T (p.Glu381Ter) single nucleotide variant Pathogenic rs724159970 GRCh38 Chromosome 4, 127921733: 127921733
17 MFSD8 NM_152778.2(MFSD8): c.1141G> T (p.Glu381Ter) single nucleotide variant Pathogenic rs724159970 GRCh37 Chromosome 4, 128842888: 128842888
18 MFSD8 NM_152778.2(MFSD8): c.1102G> C (p.Asp368His) single nucleotide variant Pathogenic rs727502800 GRCh38 Chromosome 4, 127921860: 127921860
19 MFSD8 NM_152778.2(MFSD8): c.1102G> C (p.Asp368His) single nucleotide variant Pathogenic rs727502800 GRCh37 Chromosome 4, 128843015: 128843015
20 MFSD8 NM_152778.2(MFSD8): c.863+3_863+4insT insertion Pathogenic rs727502801 GRCh37 Chromosome 4, 128854136: 128854137
21 MFSD8 NM_152778.2(MFSD8): c.863+3_863+4insT insertion Pathogenic rs727502801 GRCh38 Chromosome 4, 127932981: 127932982
22 MFSD8 NM_152778.2(MFSD8): c.1444C> T (p.Arg482Ter) single nucleotide variant Pathogenic rs724159971 GRCh37 Chromosome 4, 128841898: 128841898
23 MFSD8 NM_152778.2(MFSD8): c.1444C> T (p.Arg482Ter) single nucleotide variant Pathogenic rs724159971 GRCh38 Chromosome 4, 127920743: 127920743
24 MFSD8 NM_152778.2(MFSD8): c.886G> A (p.Asp296Asn) single nucleotide variant Uncertain significance rs147295085 GRCh37 Chromosome 4, 128851950: 128851950
25 MFSD8 NM_152778.2(MFSD8): c.886G> A (p.Asp296Asn) single nucleotide variant Uncertain significance rs147295085 GRCh38 Chromosome 4, 127930795: 127930795
26 MFSD8 NM_152778.2(MFSD8): c.63-4delC deletion Conflicting interpretations of pathogenicity rs755011754 GRCh37 Chromosome 4, 128878751: 128878751
27 MFSD8 NM_152778.2(MFSD8): c.63-4delC deletion Conflicting interpretations of pathogenicity rs755011754 GRCh38 Chromosome 4, 127957596: 127957596
28 MFSD8 NM_152778.2(MFSD8): c.656T> C (p.Phe219Ser) single nucleotide variant Uncertain significance rs112734134 GRCh37 Chromosome 4, 128861050: 128861050
29 MFSD8 NM_152778.2(MFSD8): c.656T> C (p.Phe219Ser) single nucleotide variant Uncertain significance rs112734134 GRCh38 Chromosome 4, 127939895: 127939895
30 MFSD8 NM_152778.2(MFSD8): c.590G> A (p.Gly197Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs28544073 GRCh37 Chromosome 4, 128861116: 128861116
31 MFSD8 NM_152778.2(MFSD8): c.590G> A (p.Gly197Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs28544073 GRCh38 Chromosome 4, 127939961: 127939961
32 MFSD8 NM_152778.2(MFSD8): c.1136T> C (p.Phe379Ser) single nucleotide variant Uncertain significance rs191172038 GRCh37 Chromosome 4, 128842893: 128842893
33 MFSD8 NM_152778.2(MFSD8): c.1136T> C (p.Phe379Ser) single nucleotide variant Uncertain significance rs191172038 GRCh38 Chromosome 4, 127921738: 127921738
34 MFSD8 NM_152778.2(MFSD8): c.998+4A> G single nucleotide variant Uncertain significance rs796052745 GRCh37 Chromosome 4, 128851834: 128851834
35 MFSD8 NM_152778.2(MFSD8): c.998+4A> G single nucleotide variant Uncertain significance rs796052745 GRCh38 Chromosome 4, 127930679: 127930679
36 MFSD8 NM_152778.2(MFSD8): c.343G> A (p.Val115Met) single nucleotide variant Uncertain significance rs183450731 GRCh38 Chromosome 4, 127943848: 127943848
37 MFSD8 NM_152778.2(MFSD8): c.343G> A (p.Val115Met) single nucleotide variant Uncertain significance rs183450731 GRCh37 Chromosome 4, 128865003: 128865003
38 MFSD8 NM_152778.2(MFSD8): c.291G> C (p.Trp97Cys) single nucleotide variant Uncertain significance rs796052749 GRCh37 Chromosome 4, 128865055: 128865055
39 MFSD8 NM_152778.2(MFSD8): c.291G> C (p.Trp97Cys) single nucleotide variant Uncertain significance rs796052749 GRCh38 Chromosome 4, 127943900: 127943900
40 MFSD8 NM_152778.2(MFSD8): c.206C> T (p.Pro69Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs147750747 GRCh37 Chromosome 4, 128865140: 128865140
41 MFSD8 NM_152778.2(MFSD8): c.206C> T (p.Pro69Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs147750747 GRCh38 Chromosome 4, 127943985: 127943985
42 MFSD8 NM_152778.2(MFSD8): c.115A> T (p.Ile39Phe) single nucleotide variant Uncertain significance rs201739608 GRCh37 Chromosome 4, 128878695: 128878695
43 MFSD8 NM_152778.2(MFSD8): c.115A> T (p.Ile39Phe) single nucleotide variant Uncertain significance rs201739608 GRCh38 Chromosome 4, 127957540: 127957540
44 MFSD8 NM_152778.2(MFSD8): c.1429G> A (p.Ala477Thr) single nucleotide variant Uncertain significance rs878855229 GRCh37 Chromosome 4, 128841913: 128841913
45 MFSD8 NM_152778.2(MFSD8): c.1429G> A (p.Ala477Thr) single nucleotide variant Uncertain significance rs878855229 GRCh38 Chromosome 4, 127920758: 127920758
46 MFSD8 NM_152778.2(MFSD8): c.1107G> C (p.Leu369Phe) single nucleotide variant Uncertain significance rs747197852 GRCh38 Chromosome 4, 127921767: 127921767
47 MFSD8 NM_152778.2(MFSD8): c.1107G> C (p.Leu369Phe) single nucleotide variant Uncertain significance rs747197852 GRCh37 Chromosome 4, 128842922: 128842922
48 MFSD8 NM_152778.2(MFSD8): c.1320A> G (p.Leu440=) single nucleotide variant Likely benign rs148864710 GRCh37 Chromosome 4, 128842709: 128842709
49 MFSD8 NM_152778.2(MFSD8): c.1320A> G (p.Leu440=) single nucleotide variant Likely benign rs148864710 GRCh38 Chromosome 4, 127921554: 127921554
50 MFSD8 NM_152778.2(MFSD8): c.435A> C (p.Gly145=) single nucleotide variant Likely benign rs781299975 GRCh37 Chromosome 4, 128864911: 128864911

Expression for Ceroid Lipofuscinosis, Neuronal, 7

Search GEO for disease gene expression data for Ceroid Lipofuscinosis, Neuronal, 7.

Pathways for Ceroid Lipofuscinosis, Neuronal, 7

Pathways related to Ceroid Lipofuscinosis, Neuronal, 7 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.89 CLN5 MFSD8 PPT1

GO Terms for Ceroid Lipofuscinosis, Neuronal, 7

Cellular components related to Ceroid Lipofuscinosis, Neuronal, 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 synaptic vesicle GO:0008021 9.16 DNAJC5 PPT1
2 lysosome GO:0005764 9.13 CLN5 MFSD8 PPT1
3 lysosomal membrane GO:0005765 8.8 CLN5 DNAJC5 MFSD8

Biological processes related to Ceroid Lipofuscinosis, Neuronal, 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of neuron apoptotic process GO:0043524 9.43 DNAJC5 PPT1
2 cholesterol metabolic process GO:0008203 9.4 CLN6 CLN8
3 neuron development GO:0048666 9.37 MFSD8 PPT1
4 lysosome organization GO:0007040 9.33 CLN6 MFSD8 PPT1
5 neurotransmitter secretion GO:0007269 9.32 DNAJC5 PPT1
6 cellular macromolecule catabolic process GO:0044265 9.26 CLN6 PPT1
7 lysosomal lumen acidification GO:0007042 9.13 CLN5 CLN6 PPT1
8 protein catabolic process GO:0030163 8.92 CLN5 CLN6 CLN8 PPT1

Sources for Ceroid Lipofuscinosis, Neuronal, 7

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17 ExPASy
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62 PubMed
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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