Description:
VICI SYNDROME; VICIS
ECTOPIC P-GRANULES AUTOPHAGY PROTEIN 5, C. ELEGANS, HOMOLOG OF; EPG5
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
PIGI Consented Sample |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Ethnicity
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Not Hispanic/Latino
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Ethnicity
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Ashkenazi Jewish
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Country of Origin
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USA
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Family Member
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1
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Family History
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N
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Relation to Proband
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proband
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| Gene |
EPG5 |
| Chromosomal Location |
18q12.3-q21.1 |
| Allelic Variant 1 |
; VICI SYNDROME; VICIS |
| Identified Mutation |
p.Q336R; c.1007A>G |
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| Gene |
EPG5 |
| Chromosomal Location |
18q12.3-q21.1 |
| Allelic Variant 2 |
; VICI SYNDROME; VICIS |
| Identified Mutation |
p.Q336R; c.1007A>G |
| Remarks |
Clinically affected; symptom onset began at 3 months; mother noted decreased movement towards end of pregnancy; mother was on enoxaparin during pregnancy; at 3 months of age, MRI showed multiple lesions including pontocerebellar hyperplasia, asgenesis of corpus callosum, and decreased myelination, failure to thrive; facial dysmorphism; symptoms include seizures, brain abnormalities including agenesis of the corpus callosum, cataracts, optic atrophy, chronic lung disease, mild hypertrophic cardiomyopathy, severe myopathy/hypotonia, GI dysmotility with G-tube, multiple pneumonias, urosepsis, obstructive sleep apnea, unable to follow verbal commands (this milestone has since been achieved); normal karyotype, WES GeneDx; genetic testing revealed a homozygous recessive mutation in the EPG5 gene: c.1007A>G (p.Q336R) as well as a mutation of the MT-TS1 gene: m.7478G>A (G7478A) that is likely to be pathogenic, but may be benign, further targeted genetic testing would be needed to confirm the presence of this variant in tissue; treatments: G-tube, Nissan fundoplication, physical therapy, speech therapy, occupational therapy; assisted devices: wheelchair, orthotics, communication/learning device; no family history of the disease; parents are non-consanguineous; PubMed ID# 26917586, 27343256, 27343258; same subject as GM27291 (stem cell) and GM26636 (fibroblast); mother is GM26251 (Lymph); father is GM26250 (Lymph) and fibro (GM27894) and unaffected sister is GM27895 (fibro). |
| Kane MS, Zhao J, Muskett J, Diplock A, Srivastava S, Hauser N, Deeken JF, Niederhuber JE, Smith WE, Vilboux T, Ebrahimi-Fakhari D, EPG5 Variants with Modest Functional Impact Result in an Ameliorated and Primarily Neurological Phenotype in a 35-Year-Old Patient with Vici Syndrome Neuropediatrics50:257-261 2019 |
| PubMed ID: 31226715 |
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