Description:
CYSTIC LEUKOENCEPHALOPATHY
IBA57, S. CEREVISIAE, HOMOLOG OF; IBA57
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
PIGI Consented Sample |
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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Transformant
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Untransformed
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Race
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White
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Ethnicity
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Hispanic/Latino
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Ethnicity
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Mexican
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Country of Origin
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USA
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Family History
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Y
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Relation to Proband
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proband
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Confirmation
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Molecular characterization before cell line submission to CCR
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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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| PDL at Freeze |
2.56 |
| Passage Frozen |
2 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Gene |
IBA57 |
| Chromosomal Location |
1q42.13 |
| Allelic Variant 1 |
Transversion; |
| Identified Mutation |
P236A; c.706C>G; p.Pro236Ala |
| |
| Gene |
IBA57 |
| Chromosomal Location |
1q42.13 |
| Allelic Variant 1 |
Transition; |
| Identified Mutation |
R197W; c.589C>T; p.Arg197Trp |
| Remarks |
Clinically affected; familial cavitating (cystic) leukoencephalopathy; cavitating leukodystrophy; spasticity/hypertonia; bilateral dislocated hips; scissoring of both legs; sustained clonus of left foot; 3 beats of clonus of right foot; anemia; chronic diarrhea; seizures (shaking, eye rolling, cyanosis); allergic conjunctivitis; anorexia; pain; bilateral optic atrophy at 8 years of age; developmental delay/mental retardation; milestones: babbles, has rolled over previously at 5 month of age but no longer does, does not sit or crawl; muscle biopsy at age 6 years old was significant for variation in muscle fiber size (smallness of type 2 fibers); structural studies did not show mitochondrial abnormality and no evidence of accumulation of lipid or glycogen; testing was normal for mitochondrial complexes I, II, III, and IV; MRI at age 6 years old reveals abnormal spectra in the white matter and basal ganglia, with decreased N-acetylaspartate and possible lactate metabolites; extreme atrophy of corpus callosum and white matter, that was partially cystic; genetic testing reveals compound heterozygous mutations in the IBA57 gene: R197W (c.589C>T, p.Arg197Trp, rs368114681) and P236A(c.706C>G, p.Pro236Ala, rs769063859); received physiotherapy and occupational therapy, but discontinued due to lack of progress; treated with baclofen previously and was discontinued due to lack of progress; medications: coenzyme Q10, levocarnitine; currently in special education; similarly affected sibling (not in repository) |
| Cumulative PDL at Freeze |
5.08 |
| Passage Frozen |
2 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
3% |
| Medium |
Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Supplement |
- |
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