GM06077
LCL from B-Lymphocyte
Description:
DYSTROPHIA MYOTONICA 1; DM1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Muscular Dystrophies |
| Class |
Disorders with Trinucleotide Expansions |
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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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LCL from B-Lymphocyte
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Family Member
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3
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Relation to Proband
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daughter
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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 |
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| Gene |
DMPK |
| Chromosomal Location |
19q13.2-q13.3 |
| Allelic Variant 1 |
605377.0001; MYOTONIC DYSTROPHY |
| Identified Mutation |
(CTG)n EXPANSION; The consistent genetic defect associated with myotonic dystrophy is an amplified trinucleotide CTG repeat in the 3-prime untranslated region of the serine-threonine kinase gene DMK on 19q. Unaffected individuals have between 5 and 27 copies. DM patients who are minimally affected have at least 50 repeats, while more severely affected patients have expansion of the repeat-containing segment up to several kilobases. |
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| Gene |
DMPK |
| Chromosomal Location |
19q13.2-q13.3 |
| Allelic Variant 1 |
605377.0001; MYOTONIC DYSTROPHY |
| Identified Mutation |
(CTG)n EXPANSION; The consistent genetic defect associated with myotonic dystrophy is an amplified trinucleotide CTG repeat in the 3-prime untranslated region of the serine-threonine kinase gene DMK on 19q. Unaffected individuals have between 5 and 27 copies. DM patients who are minimally affected have at least 50 repeats, while more severely affected patients have expansion of the repeat-containing segment up to several kilobases. |
| Remarks |
Clinically affected; diagnosed shortly after birith; delivered prematurely (breech) and weighed 5 pounds 9 ounces; vigorous resuscitation required and on respirator for approximately three months after birth; hypotonia at birth; scoliosis developed at approximately 4 months of age and required body brace; by age 2 there was delay in communication skills, inability to sit without support, delayed fine motor adaptive skills, difficulty maintaining head control, delayed milestones; high-arched palate; thin, long face with moderate facial weakness; inability to completely close eyelids; thin, elongated head; hypertelorism; little facial movement; bilateral nonobligatory tonic neck responses; reduced muscle tone and reduced muscle bulk in all extremities; clinical and electrical myotonia; donor subject has one normal CTG repeat allele and one allele with a CTG repeat size of approximately 1600 (minor species at 2400) in the DMPK gene; affected mother is GM04608; affected sister is GM04601; maternal grandfather is GM06075; see GM04602 fibroblast |
| Asano K, Yoshimi K, Takeshita K, Mitsuhashi S, Kochi Y, Hirano R, Tingyu Z, Ishida S, Mashimo T, CRISPR Diagnostics for Quantification and Rapid Diagnosis of Myotonic Dystrophy Type 1 Repeat Expansion Disorders ACS synthetic biology13:3926-3935 2024 |
| PubMed ID: 39565688 |
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| Kalman L, Tarleton J, Hitch M, Hegde M, Hjelm N, Berry-Kravis E, Zhou L, Hilbert JE, Luebbe EA, Moxley RT, Toji L, Development of a Genomic DNA Reference Material Panel for Myotonic Dystrophy Type 1 (DM1) Genetic Testing The Journal of molecular diagnostics : JMD13:3926-3935 2012 |
| PubMed ID: 23680132 |
| NCBI GTR |
160900 MYOTONIC DYSTROPHY 1; DM1 |
| OMIM |
160900 MYOTONIC DYSTROPHY 1; DM1 |
| Omim Description |
DM PROTEIN KINASE, INCLUDED |
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DYSTROPHIA MYOTONICA; DM |
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DYSTROPHIA MYOTONICA; DMPK |
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MYOTONIC DYSTROPHY |
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MYOTONIC DYSTROPHY PROTEIN KINASE, INCLUDED; MDPK, INCLUDED |
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MYOTONIN-PROTEIN KINASE, INCLUDED |
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STEINERT DISEASEDM-KINASE, INCLUDED; DMK, INCLUDED |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
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