Description:
NEMALINE MYOPATHY 3; NEM3
ACTIN, ALPHA-1, SKELETAL MUSCLE; ACTA1
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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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Skin
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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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English, Irish, German
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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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Biochemical 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 |
6.1 |
| Passage Frozen |
2 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| Gene |
ACTA1 |
| Chromosomal Location |
1q42.13 |
| Allelic Variant 1 |
p.Pro72Arg; NEMALINE MYOPATHY 3; NEM3 |
| Identified Mutation |
c.215C>G |
| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
8 YR |
| Sex |
Male |
| Age at Diagnosis(If not a control) |
10 WK |
| Hispanic or Latino/Not Hispanic or Latino |
Not Hispanic/Latino |
| Racial Category |
White |
| Country |
USA |
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| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Age of Symptom Onset and Age at Diagnosis |
| In Utero History Information |
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| Birth History Information |
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| Dysmorphic Features |
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| Neurological Symptoms |
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| Optical and Audiological Symptoms |
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| Musculoskeletal Symptoms |
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| Developmental Milestones |
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| Gastrointestinal Symptoms |
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| Genitourinary Symptoms |
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| Respiratory and Cardiovascular Symptoms |
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| Cognitive and Behavioral Symptoms |
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| Additional Information |
| Testing Performed |
| Treatments and Assistive Devices |
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| Medications |
| Family History |
| Remarks |
Clinically affected; age of diagnosis is 10 weeks; age of symptom onset was at birth; born with severe arthrogryposis and respiratory failure; talipes equinovarus deformity of foot bilaterally; significant genu valgus at the knees; myopathic facial appearance; prominent thoracic kyphoscoliosis with a compensatory exaggerated lumbar lordosis and cervical lordosis; previous significant recurrent respiratory tract infections; nocturnal hypoventilation requiring gastronomy feeds; developmental delay; can use some words and noises to communicate; low level of intellectual functioning; able to mobilize up to a half an hour using a walker frame; de novo heterozygous variant found on exon 3 in ACTA1 gene c.215C>G (p.Pro72Arg); muscle biopsy noted the presence of fuscinophilic rod bodies within some of the muscle fibres studied, nemaline rods in numerous fibres found which led to diagnosis of nemaline rod myopathy; neuropsychological assessment found significant deficits in physical, motor, speech, and expressive language skills; assistive devices include wheelchair, orthotics, communication/learning device, and non-invasive ventilation/walker; medications include L-tryosine; surgeries include gastrostomy, fundoplication, and orchiopexy; uses BiPAP mainly at night; severe respiratory issues began to improve once given antibiotics, regular chest physiotherapy, use of a vibration plate, regular hypertonic saline nebs 3 times per day, and regular suctioning; lymph (GM27144). |
| Cumulative PDL at Freeze |
6.1 |
| Passage Frozen |
2 |
| Split Ratio |
1:6 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
3% |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Supplement |
- |
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