Description:
MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD
TRANSLOCATED CHROMOSOME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Chromosome Abnormalities
Muscular Dystrophies |
| Class |
Congenital Muscle Diseases |
| Class |
Disorders of Connective Tissue, Muscle, and Bone |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Race
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Other
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Ethnicity
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CHINESE/HAWAIIAN/CAUCASIAN
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Relation to Proband
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proband
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Confirmation
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Molecular characterization after cell line submission to CCR
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ISCN
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46,X,t(X;5)(Xqter>Xp21.2::5q35.3>5qter; 5pter>5q35.3::Xp21.2>Xpter)
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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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| Passage Frozen |
6 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
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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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| Cytogenetics |
Chromosome 5: TRANSLOCATION Breakpoint 5q35 t(X;5)5q35 |
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Chromosome X: TRANSLOCATION Breakpoint Xp21 t(X;5)Xp21 |
| Remarks |
Clinically affected female; de novo X/autosome translocation; walked at 11 months; initial symptoms started about age 4 and included calf hypertrophy, stumbling, and falling; atrophy of quadriceps muscles; Gower's maneuver; moderate weakness of anterior tibials, quadriceps, biceps, triceps, and deltoid muscles (at age 6); muscle strength in upper extremities 3+ to 4 and 2- in lower extremities (at age 9); absent deep tendon reflexes; short stature; tight heelcords; waddling gait; mild lumbar lordosis; elevated CPK of 8,300; EMG showed polyphasic units of small amplitude and short duration; muscle biopsy showed variability in fiber diameter, with degenerating and regenerating fibers, basophilic sarcoplasm, centrally located nuclei, and increased connective tissue; normal X is late replicating; PCR analysis of dystrophin gene shows no deletion or duplication; clinically normal parents and 3 brothers. |
| Carrel L, Willard HF, Heterogeneous gene expression from the inactive X chromosome: an X-linked gene that escapes X inactivation in some human cell lines but is inactivated in others. Proc Natl Acad Sci U S A96:7364-9 1999 |
| PubMed ID: 10377420 |
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| Jacobs PA, Hunt PA, Mayer M, Bart RD, Duchenne muscular dystrophy (DMD) in a female with an X/autosome translocation: further evidence that the DMD locus is at Xp21. Am J Hum Genet33:513-8 1981 |
| PubMed ID: 7258185 |
| dbSNP |
dbSNP ID: 22254 |
| NCBI GTR |
310200 MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD |
| OMIM |
310200 MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD |
| Omim Description |
APO-DYSTROPHIN 1, INCLUDED |
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BMDDYSTROPHIN, INCLUDED; DMD, INCLUDED |
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CARDIOMYOPATHY, X-LINKED DILATED, INCLUDED; XLCM, INCLUDED |
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MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC PROGRESSIVE, DUCHENNE AND BECKERTYPES; DMD |
| Passage Frozen |
6 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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