Description:
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1; FSHD1
FSHD GENE 1; FRG1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Muscular Dystrophies |
| Class |
Congenital Muscle 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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Race
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White
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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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| creatine kinase |
According to the submitter, biochemical test results for this subject showed increased enzyme activity. EC Number: 2.7.3.2 |
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| 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; history of progressive upper and lower limb weakness; bifacial weakness; scapular winging; elevated serum CPK; muscle biopsy showed myopathic changes; Clinically unaffected individuals usually have >10 D4Z4 repeats on both alleles at chromosome 4q35. There is a homologous D4Z4 locus on chromosome 10qter. Normally there are two 4q-type arrays and two 10q-type arrays. In these cases, the 4q-arrays are implied as actually on 4q. But there can be four 4q-type arrays and no 10q-type, or three 4q-type and one 10q-type arrays, or no 4q-type, or one 10q-type array and three 4q-type arrays. EcoRI/HindIII double digestion fragment analysis revealed four 4q-type D4Z4 repeats in this donor subject. The repeat copy numbers are 4, 9, 10 and 36. |
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