Description:
EHLERS-DANLOS SYNDROME, TYPE VI
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Connective Tissue, Muscle, and Bone |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Race
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White
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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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Clinical summary/Case history
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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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| Passage Frozen |
15 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
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| procollagen-lysine 5-dioxygenase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 1.14.11.4; 30% activity. |
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| Remarks |
Parents not affected; kyphoscoliosis; recurrent joint dislocation; hyperextensible skin and joints; decreased collagen hydroxylysine content; similarly affected sib; 30% of normal lysyl hydroxylase activity |
| Heikkinen J, Toppinen T, Yeowell H, Krieg T, Steinmann B, Kivirikko KI, Myllyla R, Duplication of seven exons in the lysyl hydroxylase gene is associated with longer forms of a repetitive sequence within the gene and is a common cause for the type VI variant of Ehlers-Danlos syndrome. Am J Hum Genet60:48-56 1997 |
| PubMed ID: 8981946 |
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| Heikkinen J, Hautala T, Kivirikko KI, Myllyla R, Structure and expression of the human lysyl hydroxylase gene (PLOD): introns 9
and 16 contain Alu sequences at the sites of recombination in Ehlers-Danlos
syndrome type VI patients. Genomics24(3):464-71 1994 |
| PubMed ID: 7713497 |
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| Pousi B, Hautala T, Heikkinen J, Pajunen L, Kivirikko KI, Myllyla R, Alu-Alu recombination results in a duplication of seven exons in the lysyl hydroxylase gene in a patient with the type VI variant of Ehlers- Danlos syndrome. Am J Hum Genet55:899-906 1994 |
| PubMed ID: 7977351 |
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| Hautala T, Heikkinen J, Kivirikko KI, Myllyla R, A large duplication in the gene for lysyl hydroxylase accounts for the type VI variant of Ehlers-Danlos syndrome in two siblings. Genomics15:399-404 1993 |
| PubMed ID: 8449506 |
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| Quinn RS, Krane SM, Abnormal properties of collagen lysyl hydroxylase from skin fibroblasts of siblings with hydroxylysine-deficient collagen. J Clin Invest57:83-93 1976 |
| PubMed ID: 173744 |
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| Pinnell SR, Krane SM, Kenzora JE, Glimcher MJ, A heritable disorder of connective tissue. Hydroxylysine-deficient collagen disease. N Engl J Med286:1013-20 1972 |
| PubMed ID: 5016372 |
| Passage Frozen |
15 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| 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 |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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