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 |
| 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
|
DNA from LCL
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Race
|
White
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|
Ethnicity
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Not Hispanic/Latino
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Ethnicity
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Irish, German, Polish
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Country of Origin
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USA
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Family Member
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1
|
|
Family History
|
N
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Relation to Proband
|
proband
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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 |
p.Trp5885*; NEMALINE MYOPATHY 2 (NEM2) |
| Identified Mutation |
c.17654G>A |
| |
| Gene |
NEB |
| Chromosomal Location |
2q23.3 |
| Allelic Variant 2 |
p.Phe8257Leufs*10; NEMALINE MYOPATHY 2 (NEM2) |
| Identified Mutation |
c.24771delT |
| Remarks |
Clinically affected; exome sequencing of exons 112 and 176 revealed subject has two mutations in the NEB gene: c.17654G>A (p.Trp5885*), a known causative mutation resulting in a premature protein termination; and c.24771delT (p.Phe8257Leufs*10), a mutation predicted to result in a frame-shift and premature protein termination; family history: maternal first cousin once removed is also affected (not in repository). |
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