NA08936
DNA from Fibroblast
Description:
MYOCLONIC EPILEPSY OF LAFORA
NHL REPEAT-CONTAINING 1 GENE; NHLRC1
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Disorders of the Nervous System |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
DNA from Fibroblast
|
|
Family Member
|
2
|
|
Relation to Proband
|
brother
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Gene |
NHLRC1 |
| Chromosomal Location |
6p22.3 |
| Allelic Variant 1 |
P129H; PROGRESSIVE MYOCLONIC 2B |
| Identified Mutation |
PRO129HIS |
| |
| Gene |
NHLRC1 |
| Chromosomal Location |
6p22.3 |
| Allelic Variant 2 |
P129H; PROGRESSIVE MYOCLONIC 2B |
| Identified Mutation |
PRO129HIS |
| Remarks |
Seizure disorders at age 12; bedridden by age 17; ataxia & myoclonus; abnormal electroencephalogram with diffuse slowing & bursts of spikes & spike-waves; muscle bx in similarly aff older brother was positive for Lafora body epilepsy; donor subject is homozygous for a C>A transversion at nucleotide 386 of the NHLRC1 (EPM2B) gene (386C>A) resulting in the substitution of histidine for proline at codon 129 [Pro129His (P129H)] |
| Lahuerta M, Aguado C, Sánchez-Martín P, Sanz P, Knecht E, Degradation of altered mitochondria by autophagy is impaired in Lafora disease The FEBS journal285:2071-2090 2017 |
| PubMed ID: 29645350 |
| |
| Lohi H, Turnbull J, Zhao XC, Pullenayegum S, Ianzano L, Yahyaoui M, Mikati MA, Quinn NP, Franceschetti S, Zara F, Minassian BA, Genetic diagnosis in Lafora disease: genotype-phenotype correlations and diagnostic pitfalls Neurology68:996-1001 2007 |
| PubMed ID: 17389303 |
|
|