Description:
EHLERS-DANLOS SYNDROME: TYPE IV; ARTERIAL, ECCHYMOTIC TYPE
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable 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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Family Member
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1
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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 |
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| Gene |
COL3A1 |
| Chromosomal Location |
2q31 |
| Allelic Variant 1 |
exon 37 skipped; EHLERS-DANLOS SYNDROME, TYPE IV |
| Identified Mutation |
IVS37+1delG |
| Remarks |
Clinically affected; repeat hematomas in legs; pain in shoulders, left wrist, lower back, feet and ankles; abnormal auricles (attached plina); abnormal ear canals; mild micrognathia; high palate; blue sclerae; downsloping ribs; pectus carinatum; abnormal auscultation; decreased breath sounds; blood pressure 120/76; skin soft texture and cigarette paper scars with hyperextensibility; striae at knees, legs and hips; bruising; mild scoliosis; hyperextension of shoulders and elbows; hip limitation; pes planus; genu valga; anemia; constipation; early onset degenerative disease of spine; irregular carotids; dural ectasia noted at all levels; spondylolisthesis at L5-S1; disc desiccation at L1-L2; donor subject is heterozygous for a 1 bp deletion in intron 37 of the COL3A1 gene (IVS37+1delG); see GM21595 Fibroblast |
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