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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White
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Ethnicity
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Not Hispanic/Latino
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Ethnicity
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French/Canadian, Scandinavian, German
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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 |
| |
| Gene |
NEB |
| Chromosomal Location |
2q23.3 |
| Allelic Variant 1 |
c.3252_3255+3DELTGACGTA; NEMALINE MYOPATHY 2 (NEM2) |
| Identified Mutation |
c.3252_3255+3DELTGACGTA; 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 |
; NEMALINE MYOPATHY 2 (NEM2) |
| Identified Mutation |
del encompassing exon 77; genomic locations: 152,469,299 in intron 77 and 152,471,995 in intron 76. |
| Remarks |
Clinically affected; diagnosed at age 5 years; symptom onset at birth; high arched palate; very weak suck; swallowing dysfunction; aspiration; failure to thrive; motor delay; skeletal muscle weakness; respiratory weakness; drooling; speech impairment; maximum motor function achieved: climb 4 stairs with handrail; electron microscopy result: biopsy of the left gluteus muscle showed chronic myopathy with excessive accumulation of rod structures, indicative of nemaline rod myopathy, and fatty replacement within the muscle; NEB gene sequencing test result: heterozygous in the NEB gene for a mutation defined as c.3252_3255+3delTGACGTA, which includes the terminal four nucleotides of exon 32 and the first three nucleotides of intron 32, this region covers the conserved GT splice donor signal; array comparative genomic hybridization (aCGH) test result: heterozygous for ~2.7 kb deletion within the NEB gene encompassing exon 77 with genomic locations 152,469,299 in intron 77 and 152,471,995 in intron 76 (GRCh37/hg19); management: physical therapy, occupational therapy, psychological therapy and speech language therapy; surgeries:pharyngeal flap, g-tube, and tonsillectomy; medications: l-tyrosine + l-carnitine, Miralax, Prilosec, mesalamine; assistive devices: wheelchair, orthotics, service animal, respiratory support used at night. |
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