Description:
FRIEDREICH ATAXIA 1; FRDA
FRATAXIN; FXN
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders with Trinucleotide Expansions |
| 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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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 |
FXN |
| Chromosomal Location |
9q13-q21.1 |
| Allelic Variant 1 |
606829.0005; FRIEDREICH ATAXIA |
| Identified Mutation |
GLY130VAL; Bidichandani et al. (1997) found compound heterozygosity for the GAA triplet-repeat expansion (229300.0001) and a novel missense mutation, G130V, in 3 sibs with variant Friedreich ataxia. Three of 6 sibs were affected: a male age 42, a male age 39, and a female age 35. Onset of disease was in the early teens, starting with weakness in the lower limbs and followed by gradual progression over the ensuing 20 years. Two brothers were still ambulatory, using either a walking stick or walker, and led fully productive working lives. Their upper limbs were affected to a lesser extent than their legs and lacked several key signs. They had sensory loss over the distal limbs, mild-to-moderate motor weakness, impaired position and vibratory sense, and hypo- or areflexia. Bilateral Babinski sign was also present in 1 brother. There was no atrophy, and muscle tone was normal. Notably, there was no dysarthria, and coordination was either very mildly affected or normal. Nerve conduction studies revealed slowing of motor-conduction velocities and absent sensory-evoked responses. Magnetic resonance imaging (MRI) revealed cervical spinal cord atrophy. No cardiac abnormalities were detected. Blood glucose levels were borderline elevated, and mild glucose intolerance was revealed in a 5-hour glucose-tolerance test. The sister was somewhat more physically incapacitated than her older 2 brothers.
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| Remarks |
Clinically affected; donor subject has one allele with a point mutation in the FXN (frataxin) gene: Gly130Val (G130V); the other allele is as yet unstudied |
| Doni D, Rigoni G, Palumbo E, Baschiera E, Peruzzo R, De Rosa E, Caicci F, Passerini L, Bettio D, Russo A, Szabò I, Soriano ME, Salviati L, Costantini P, The displacement of frataxin from the mitochondrial cristae correlates with abnormal respiratory supercomplexes formation and bioenergetic defects in cells of Friedreich ataxia patients FASEB journal : official publication of the Federation of American Societies for Experimental Biology35:e21362 2020 |
| PubMed ID: 33629768 |
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