Description:
MUSCULAR DYSTROPHY, BECKER TYPE; BMD
DYSTROPHIN; DMD
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Muscular Dystrophies
GeT-RM Samples |
| 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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Family History
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N
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Relation to Proband
|
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 LINE assay |
| |
| Gene |
DMD |
| Chromosomal Location |
Xp21.2 |
| Allelic Variant 1 |
duplicated exons 27-28; BECKER MUSCULAR DYSTROPHY |
| Identified Mutation |
EX27-28DUP |
| Demographic Data |
| Relation to Proband |
proband |
| Sex |
Male |
| Racial Category |
White |
| |
| Data Elements |
| Clinical Element Type: Duchenne Muscular Dystrophy |
| (Baseline) |
| Diagnosis |
| Muscle Pain with increased activity or exercise |
Yes |
| Age at Diagnosis (in years) |
6 |
| Age at first symptom or medical concern |
5 YR |
| Relative with similar muscle disease |
No |
| If yes, give their relationship(s) to you |
No Data |
| Skeletal/Mobility |
| Scoliosis |
No |
| Broken bones due to DMD |
No |
| If yes, broke: |
No Data |
| Delays in motor development was initially recognized |
No |
| Toe Walking initially recognized |
Yes |
| Enlarged calves initially recognized |
No |
| Walking |
Yes |
| If yes, type of walking device |
No Data |
| Mobility device ie stroller, wheelchair |
No |
| If yes, age at the start of use |
No Data |
| Stand without aid |
Yes |
| Sit without aid |
Yes |
| Neurologic |
| Problem controlling behavior |
No |
| Learning disability |
No |
| Treatment |
| Use of corticosteroids |
No |
| If yes, list those you are currently taking |
No Data |
| What is the current dosage of medication(s) |
No Data |
| Use of alternative therapies |
No |
| Type of breathing device used, if any |
No Data |
| Taking heart medication |
No |
| Tendon release surgery |
No |
| If yes, give location at which surgery was performed |
No Data |
| Laboratory Tests |
| Taken the Forced Vital Capacity (FVC%) test |
No |
| Date of the most recent FVC Test |
No Data |
| Percent value from the most recent FVC Test |
No Data |
| Cardiomyopathy |
No |
| Cardiac MRI |
No |
| Echocardiogram |
Yes |
| Holter monitor |
No |
| Taken the Left Ventricular Fraction (LVEF) test |
Yes |
| Percent value from the most recent LVEF Test |
No Data |
| Taken the Left Ventricular Shortening Fraction (LVSF) test |
Yes |
| Percent value from the most recent LVSF Test |
No Data |
| Had muscle biopsy |
No |
| Immunohistochemistry: N-terminus |
No Data |
| Immunohistochemistry: C-terminus |
No Data |
| Immunohistochemistry: Rod domain |
No Data |
| Molecular Tests |
| Immunblot/Western blot: Quantity (%) |
No Data |
| Immunblot/Western blot: Molecular size |
No Data |
| Immunblot/Western blot: Dystrophic changes |
No Data |
| Genetic test performed |
Yes |
| If yes, list identified mutation |
DUP OF EXONS 27-28 |
| Testing method used |
No Data |
| Remarks |
Clinically affected; muscle pain and cramps; toe walking; elevated liver enzymes; diagnosed at 6 years of age; walks without mobility devices; donor subject has a duplication of exons 27-28 in the DMD gene |
| Andrew M. Gross PhD, Subramanian S. Ajay PhD, Vani Rajan MS, Carolyn Brown CGC, Krista Bluske PhD, Nicole J. Burns MS, Aditi Chawla PhD, Alison J. Coffey PhD, Alka Malhotra PhD, Alicia Scocchia MS CGC, Erin Thorpe MS CGC, Natasa Dzidic MS, Karine Hovanes PhD FACMG, Trilochan Sahoo MD FACMG, Egor Dolzhenko PhD, Bryan Lajoie PhD, Amirah Khouzam MS CGC, Shimul Chowdhury PhD FACMG, John Belmont MD PhD, Eric Roller PhD, Sergii Ivakhno PhD, Stephen Tanner PhD, Julia McEachern PA MHS, Tina Hambuch PhD FACMG, Michael Eberle PhD, R. Tanner Hagelstrom PhD FACMG, David R. Bentley PhD, Denise L. Perry MS CGC & Ryan J. Taft PhD, Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease Genetics in Medicine: 2018 |
| PubMed ID: 30293986 |
| |
| Kalman L, Leonard J, Gerry N, Tarleton J, Bridges C, Gastier-Foster JM, Pyatt RE, Stonerock E, Johnson MA, Richards CS, Schrijver I, Ma T, Miller VR, Adadevoh Y, Furlong P, Beiswanger C, Toji L, Quality assurance for duchenne and becker muscular dystrophy genetic testing development of a genomic DNA reference material panel The Journal of molecular diagnostics : JMD13:167-74 2010 |
| PubMed ID: 21354051 |
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