Description:
DYSKERATOSIS CONGENITA, X-LINKED; DKC
DYSKERIN; DKC1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Other Disorders of Known Biochemistry |
| 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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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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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Gene |
DKC1 |
| Chromosomal Location |
Xq28 |
| Allelic Variant 1 |
300126.0002; DYSKERATOSIS CONGENITA, X-LINKED |
| Identified Mutation |
LEU37 DEL; In a patient with dyskeratosis congenita, Heiss et al. (1998) found deletion of nucleotides 201 to 203 (CTT), leading to deletion of leucine-37 from dyskerin.
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| Remarks |
See GM01774A Fib; HLA type Aw30,(Bw40), B13,B5; maternal grandfather was also affected; leukoplakia tongue; dysplastic finger and toenails; fibro show increased BrdU induced chromosome instability and hypersens to mitomycin-C induced cell killing; donor subject is hemizygous for an in frame 3 bp deletion of nucleotides 201_203 of the DKC1 gene (201_203delCTT) resulting in the deletion of leucine at position 37 [Leu37del] |
| Montanaro L, Tazzari PL, Derenzini M, Enhanced telomere shortening in transformed lymphoblasts from patients with X linked dyskeratosis Journal of clinical pathology56:583-6 2003 |
| PubMed ID: 12890806 |
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