GM24346
Fibroblast from Skin, Skin
Description:
MYOTUBULAR MYOPATHY 1; MTM1
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
Muscular Dystrophies
CMD Specific |
| Class |
Congenital Muscle Diseases |
|
Biopsy Source
|
Skin
|
|
Cell Type
|
Fibroblast
|
|
Tissue Type
|
Skin
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
Fibroblast from Skin, Skin
|
|
Race
|
White
|
|
Ethnicity
|
Not Hispanic/Latino
|
|
Country of Origin
|
USA
|
|
Family History
|
N
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| PDL at Freeze |
4.67 |
| Passage Frozen |
5 |
| |
| 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.
|
| 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 |
- |
|
|