Description:
MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE); MTDPS12
SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, ADENINE NUCLEOTIDE TRANSLOCATOR), MEMBER 4; SLC25A4
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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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Mennonite
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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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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| Gene |
SLC25A4 |
| Chromosomal Location |
4q35.1 |
| Allelic Variant 1 |
p.Q175RfsX38; MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE); MTDPS12 |
| Identified Mutation |
c.523delC; p.Q175RfsX38; SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, ADENINE NUCLEOTIDE TRANSLOCATOR), MEMBER 4; SLC25A4 |
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| Gene |
SLC25A4 |
| Chromosomal Location |
4q35.1 |
| Allelic Variant 2 |
p.Q175RfsX38; MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE); MTDPS12 |
| Identified Mutation |
c.523delC; p.Q175RfsX38; SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, ADENINE NUCLEOTIDE TRANSLOCATOR), MEMBER 4; SLC25A4 |
| Remarks |
Clinically affected; diagnosed at 16 years of age; hypertrophic cardiomyopathy; progressive myocardial thickening, hyperalaninemia, lactic acidosis, exercise intolerance and persistent adrenergic activation; Sanger sequencing revealed homozygous frameshift null mutation of the SLC25A4 gene (c.523delC, p.Q175RfsX38); this mutation removes over a third of the C terminus of the adenosine nucleotide translocator-1,ANT1 polypeptide, rendering the subject as ANT1 null (ANT1 -/-). ANT1 is the predominant isoform in heart and skeletal muscle [refer to publication by Strauss et al, PMID: 23401503]; positive family history. |
| Strauss KA, DuBiner L, Simon M, Zaragoza M, Sengupta PP, Li P, Narula N, Dreike S, Platt J, Procaccio V, Ortiz-González XR, Puffenberger EG, Kelley RI, Morton DH, Narula J, Wallace DC, Severity of cardiomyopathy associated with adenine nucleotide translocator-1 deficiency correlates with mtDNA haplogroup Proceedings of the National Academy of Sciences of the United States of America110:3453-8 2013 |
| PubMed ID: 23401503 |
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