Description:
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1; FSHD1
FSHD GENE 1; FRG1
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
Muscular Dystrophies |
| Class |
Congenital Muscle Diseases |
| Class |
Disorders with Trinucleotide Expansions |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
DNA from LCL
|
|
Race
|
White
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| creatine kinase |
According to the submitter, biochemical test results for this subject showed increased enzyme activity. EC Number: 2.7.3.2 |
| |
| Gene |
FRG1 |
| Chromosomal Location |
4q35 |
| Allelic Variant 1 |
; FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1A |
| Identified Mutation |
D4Z4 REPEATS ON CHROMOSOME 4q35 (<10); Almost all patients with FSHD carry deletions of an integral number of tandem 3.3-kb repeats, termed D4Z4, on chromosome 4q35. Gabellini et al. (2002) found that in FSHD muscle, genes located upstream of D4Z4 on 4q35, including FRG1 (601278), FRG2 (609032), and ANT1 (103220), are inappropriately overexpressed. They showed that an element within D4Z4 specifically binds a multiprotein complex that mediates transcriptional repression of 4q35 genes. Gabellini et al. (2002) proposed that deletion of D4Z4 leads to the inappropriate transcriptional derepression of 4q35 genes, resulting in disease. |
| Remarks |
Clinically affected; generalized limb weakness; bifacial, scapular, arm and leg weakness with bilateral scapular winging; muscle biopsy showed myopathic changes; elevated serum CPK; D4Z4 repeats for this donor subject are as follows: 4q35: 3/33 copies (clinically unaffected individuals usually have >10 D4Z4 repeats on both alleles at chromosome 4q35) and 10q26: 15/26 copies; a myoblast culture from this same donor is GM17940 |
| Yang F, Shao C, Vedanarayanan V, Ehrlich M, Cytogenetic and immuno-FISH analysis of the 4q subtelomeric region, which is associated with facioscapulohumeral muscular dystrophy Chromosoma112:350-9 2004 |
| PubMed ID: 15138770 |
|