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 |
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Cell Type
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Fibroblast
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Tissue Type
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Tonsil
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Transformant
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Untransformed
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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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Italian, German, Swiss
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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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| PDL at Freeze |
6.76 |
| Passage Frozen |
2 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Gene |
NEB |
| Chromosomal Location |
2q23.3 |
| Allelic Variant 1 |
; NEMALINE MYOPATHY 2 (NEM2) |
| Identified Mutation |
c.16984C>T |
| |
| Gene |
NEB |
| Chromosomal Location |
2q23.3 |
| Allelic Variant 2 |
p.L6523X; NEMALINE MYOPATHY 2 (NEM2) |
| Identified Mutation |
c.19568T>G |
| Remarks |
Clinically affected; symptom onset at birth; overall decreased muscle tone; left plagiocephaly; long narrow facies (scaphocephalic); facial hypotonia; cleft palate; severe scoliosis (47-53 degrees thoracolumbar); arthrogryposis multiplex congenital; ostium secundum type atrial septal defect; simple syndactyly of fingers; talipes; chalazions; chronic otitis media; severe oropharyngeal dysphagia; excessive drooling; restrictive lung disease (secondary to diagnosis); obstructive sleep apnea syndrome; developmental delay; speech impairment; maximum motor function achieved and maintained: holding head up and sitting without assistance; malignant hyperthermia precautions with anesthesia; whole exome sequencing revealed the subject to be compound heterozygous for two pathogenic nonsense mutations in the NEB gene: c.16984C>T (p.Q5662X) in exon 123 (paternally inherited) and c.19568T>G (p.L6523X) in exon 147 (maternally inherited); surgeries include: Mic-Key gastrostomy tube placement, abdominal laproscopic nissen fundoplication, tympanostomy tube insertion, tonsillectomy with adenoidectomy, palatoplasty; assistive devices: cough assist, scoliosis brace (4-6 hours/day), casting for club feet, bilateral long leg casts, lubricating ointment applied nightly for chalazions, treatments include: regular intake of Poly-V-Sol with iron; therapies include: PT/OT/ST through early intervention program (special ed 1 time/month, center-based program 5 days/week), water therapy. |
| Passage Frozen |
2 |
| Split Ratio |
1:8 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Supplement |
- |
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