Description:
KEARNS-SAYRE SYNDROME; KSS
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of the Mitochondrial Genome |
| Class |
Ophthalmologic Disorders |
| 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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JEWISH
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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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 Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Remarks |
Kearns-Sayre syndrome; external ophthalmoplegia with retinal degeneration, ptosis, myocardial fibrosis with congestive heart failure, muscle weakness, diabetes, and absence of sweat; parents have normal ERGs and EKGs; heteroplasmic mitochondrial DNA deletion from base 7836 to 14330 (hg38); see GM06225 Fibro |
| Cherry AB, Gagne KE, McLoughlin EM, Baccei A, Gorman B, Hartung O, Miller JD, Zhang J, Zon RL, Ince TA, Neufeld EJ, Lerou PH, Fleming MD, Daley GQ, Agarwal S, Induced pluripotent stem cells with a mitochondrial DNA deletion Stem cells (Dayton, Ohio)31:1287-97 2012 |
| PubMed ID: 23400930 |
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| Singh G, Lott MT, Wallace DC, A mitochondrial DNA mutation as a cause of Leber's hereditary optic neuropathy. N Engl J Med320:1300-5 1989 |
| PubMed ID: 2566116 |
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| Singh G, Neckelmann N, Wallace DC, Conformational mutations in human mitochondrial DNA. Nature329:270-2 1987 |
| PubMed ID: 2888022 |
| dbSNP |
dbSNP ID: 18087 |
| NCBI Gene |
Gene ID:3894 |
| NCBI GTR |
530000 KEARNS-SAYRE SYNDROME; KSS |
| OMIM |
530000 KEARNS-SAYRE SYNDROME; KSS |
| Omim Description |
CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MYOPATHY |
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CPEO WITH MYOPATHY |
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CPEO WITH RAGGED-RED FIBERS |
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KEARNS-SAYRE SYNDROME; KSS |
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MITOCHONDRIAL CYTOPATHY |
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OCULOCRANIOSOMATIC SYNDROME |
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OPHTHALMOPLEGIA, PIGMENTARY DEGENERATION OF RETINA, AND CARDIOMYOPATHY |
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OPHTHALMOPLEGIA, PROGRESSIVE EXTERNAL, WITH RAGGED-RED FIBERS |
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OPHTHALMOPLEGIA-PLUS SYNDROME |
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