GM28217
Fibroblast from Skin, Skin
Description:
PAROXYSMAL EXTREME PAIN DISORDER; PEPD
ERYTHROMELALGIA OR ERYTHERMALGIA
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
PIGI Consented Sample |
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Biopsy Source
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Skin
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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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Sample Source
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Fibroblast from Skin, Skin
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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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Country of Origin
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USA
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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 |
3.1 |
| Passage Frozen |
2 |
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| Gene |
SCN9A |
| Chromosomal Location |
2q24.3 |
| Allelic Variant 1 |
missense; PAROXYSMAL EXTREME PAIN DISORDER; PEXPD |
| Identified Mutation |
c.4895C>A (p.A1632E) |
| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
23 YR |
| Sex |
Female |
| 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 |
| Gene, variant, consequence, and exon number: |
SCN9A, C.4895C>A (P.A1632E), MISSENSE, 26 |
| Zygosity: |
Heterozygous |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
NEWBORN |
| In Utero History Information |
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| Birth History Information |
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| Additional Information: |
APNEA, BRADYCARDIA, POOR FEEDING AT BRITH |
| Dysmorphic Features |
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| Additional Information: |
SHORT STATURE |
| Neurological Symptoms |
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| Additional Information: |
PAROXYSMAL EXTREME PAIN; PRIMARY ERYTHERMALGIA; FREQUENT LOWER BACK PAIN; DECREASED SENSATION TO SHARP/DULL IN LOWER EXTREMITIES |
| Optical and Audiological Symptoms |
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Defective vision
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| Musculoskeletal Symptoms |
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| Additional Information: |
BACK PAIN; LEG CRAMPS; JOINT LAXITY |
| 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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| Additional Information: |
TACHYCARDIA |
| Cognitive and Behavioral Symptoms |
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Mood disorder
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| Additional Information: |
DEPRESSION |
| Additional Information |
| Uncategorized Symptoms: |
HYPOTHYROIDISM; ANEMIA; IRON DEFICIENCY; DENTAL PROBLEM |
| Testing Performed |
| Treatments and Assistive Devices |
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| Medications |
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MARIJUANA, LEVOTHYROXINE, CARBAMAZEPINE, OXCARBAZEPINE, IBUPROFEN, HYDROXYZINE, DIMETAPP |
| Family History |
| Remarks |
Clinically affected. Exhibiting clinical characteristics of both paroxysmal extreme pain disorder and inherited erythermalgia. Symptom onset at birth. Also diagnosed with hypothyroidism, anemia/iron deficiency, leg cramps and short status. See Phenotypic Data tab. |
| Estacion M, Dib-Hajj SD, Benke PJ, Te Morsche RH, Eastman EM, Macala LJ, Drenth JP, Waxman SG, NaV17 gain-of-function mutations as a continuum: A1632E displays physiological changes associated with erythromelalgia and paroxysmal extreme pain disorder mutations and produces symptoms of both disorders The Journal of neuroscience : the official journal of the Society for Neuroscience28:11079-88 2008 |
| PubMed ID: 18945915 |
| Cumulative PDL at Freeze |
3.1 |
| Passage Frozen |
2 |
| Split Ratio |
1:2 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
3% |
| 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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