Description:
NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE; NEM2
NEBULIN; NEB
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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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More than one race
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Ethnicity
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Not Hispanic/Latino
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Ethnicity
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Filipino, German, Portuguese, Scottish
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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 |
NEB |
| Chromosomal Location |
2q23.3 |
| Allelic Variant 1 |
p.Ser8073*; NEMALINE MYOPATHY 2 (NEM2) |
| Identified Mutation |
c.24218 C>A; Nebulin is a giant protein component of the cytoskeletal matrix that coexists with the thick and thin filaments within the sarcomeres of skeletal muscle. In most vertebrates, nebulin accounts for 3 to 4% of the total myofibrillar protein and its size varies from 600 to 800 kD in a manner that is tissue-, species-, and developmental stage-specific (Stedman et al., 1988). A variety of nebulin isoforms are thought to contribute to the molecular diversity of Z discs (Pelin et al., 1999). |
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| Gene |
NEB |
| Chromosomal Location |
2q23.3 |
| Allelic Variant 1 |
c.13059+5G>A; NEMALINE MYOPATHY 2 (NEM2) |
| Identified Mutation |
c.13059+5G>A; Nebulin is a giant protein component of the cytoskeletal matrix that coexists with the thick and thin filaments within the sarcomeres of skeletal muscle. In most vertebrates, nebulin accounts for 3 to 4% of the total myofibrillar protein and its size varies from 600 to 800 kD in a manner that is tissue-, species-, and developmental stage-specific (Stedman et al., 1988). A variety of nebulin isoforms are thought to contribute to the molecular diversity of Z discs (Pelin et al., 1999). |
| Remarks |
Clinically affected; diagnosed at age 7; symptom onset age 5-6 years; high-arched palate; scoliosis; generalized muscle weakness; respiratory insufficiency especially at night; fatigue;; muscle biopsy revealed nemaline myopathy; congenital myopathy testing via ACTA1 and NEB Gene sequencing revealed: heterozygous in exon 170 of the NEB gene for a sequence variant defined as c.24218C>A, which is predicted to result in premature protein termination (p.Ser8073*) and heterozygous in triplicated region of the NEB gene for a sequence variant defined as c.13059+5G>A; affected twin brother (not in repository) tested positive for both mutations; mother is unaffected carrier (GM25160). |
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