GM24346
Fibroblast from Skin, Skin
Description:
MYOTUBULAR MYOPATHY 1; MTM1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Muscular Dystrophies
CMD Specific |
| Class |
Congenital Muscle Diseases |
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Biopsy Source
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Skin
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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Transformant
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Untransformed
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Sample Source
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Fibroblast from Skin, Skin
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Race
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White
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Ethnicity
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Not Hispanic/Latino
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Country of Origin
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USA
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Family History
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N
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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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| PDL at Freeze |
4.67 |
| Passage Frozen |
5 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Gene |
MTM1 |
| Chromosomal Location |
Xq28 |
| Allelic Variant 1 |
300415.0006; MYOTUBULAR MYOPATHY, X-LINKED |
| Identified Mutation |
IVS11AS, A-G, -10; In a family with X-linked myotubular myopathy, Tanner et al. (1998) found that an A-to-G transition in intron 11 (nucleotide 1315-10) cosegregated with the haplotype associated with the MTM1 phenotype. It was presumed that a cryptic splice site existed at nucleotide position 1315-10. RT-PCR of muscle derived RNA from the patient and subsequent sequencing of the obtained products proved that splicing occurred at the new splice site. This predicted the insertion of 3 amino acids (FIQ) in frame between exon c and exon 12 in a conserved region of the protein.
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| Remarks |
Affected; born with hypoxic ischemic encepalopathy-required suction, warming, intubation and positive pressure ventilation with cardiac compression at birth; significantly reduced tone in upper extremities at birth; myopathic facies (dolichocephaly, high forehead, long face, slight midface hypoplasia); required continuous CPAP due to pulmonary insufficiency/diaphragm paresis; required orogastric tube feeding due to myopathy and swallowing dysfunction; thrombocytopenia; osteopenia; muscle biopsy revealed significant increase in central nuclei and predominantly type 1 muscle atrophy; diagnosis confirmed by genetic testing; MTM1 gene mutation: IVS11-10A>G; abnormal MRI or CT scan showed hydrocephalus; subject passed away at 15 months. |
| Cumulative PDL at Freeze |
4.67 |
| Passage Frozen |
5 |
| Split Ratio |
1:2 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| 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 |
| Supplement |
- |
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