Description:
MYOPATHY, CENTRONUCLEAR, 1; CNM1
DYNAMIN 2; DNM2
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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
PIGI Consented Sample |
| Class |
Congenital Muscle Diseases |
| 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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Ethnicity
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Not Hispanic/Latino
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Ethnicity
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GERMAN/POLISH/ENGLISH/CZECH/IRISH/HUNGARIAN
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Country of Origin
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USA
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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
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proband
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Confirmation
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Molecular characterization before cell line submission to CCR
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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 |
Dynamin 2 |
| Chromosomal Location |
19p13.2 |
| Allelic Variant 1 |
602378.0007; CENTRONUCLEAR MYOPATHY 1 |
| Identified Mutation |
GLU368LYS; In a French proband with centronuclear myopathy (160150), Bitoun et al. (2005) found an 1102G-to-A transition in exon 8 of the DNM2 gene that resulted in a glu368-to-lys amino acid substitution (E368K). The mutation occurred de novo.
Tosch et al. (2006) reported this mutation in heterozygosity in a 36-year-old woman with centronuclear myopathy who presented with neonatal hypotonia, muscle weakness, and ophthalmoparesis. She also carried a heterozygous missense mutation in the myotubularin-related protein-14 gene (MTMR14; 611089.0002). Both mutations occurred de novo. The report raised the possibility of MTMR14 being a modifier of the phenotype in some cases of centronuclear myopathy. |
| Remarks |
Clinically affected; able to run with both feet leaving the ground; walks without assistance greater than 10 steps; using genomic DNA, PCR was used to amplify exon 8 of the DNM2 gene; bi-directional sequence analysis was performed to evaluate for the mutation in the DNM2 gene; a heterozygous G>A nucleotide change was identified; this missense mutation leads to the replacement of the normal glutamic acid codon (GAG) with a lysine codon (AAG) at position 368 of the resultant protein GLU368LYS (E368K); unaffected father is GM23795(Lymph); unaffected mother is GM23794(Lymph); unaffected brother is GM23793(Lymph). |
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