Description:
RETT SYNDROME; RTT
METHYL-CPG-BINDING PROTEIN 2; MECP2
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of the Nervous System |
| 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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2
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Relation to Proband
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half-sister
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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 |
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| Gene |
MECP2 |
| Chromosomal Location |
Xq28 |
| Allelic Variant 1 |
300005.0008; RETT SYNDROME |
| Identified Mutation |
ARG106TRP; In 2 affected half sisters of a family with Rett syndrome (312750), Amir et al. [Nature Genet. 23: 185-188 (1999)] identified a C-to-T transition at nucleotide 390 of the MECP2 gene, resulting in an ARG106-to-TRP substitution. |
| Remarks |
Clinically affected; donor subject carries a missense mutation, 316C>T, in the gene encoding methyl-CpG binding protein 2 (MECP2) resulting in the change of a conserved amino acid [ARG106TRP (R106W)] in the methyl-binding domain. This mutation was alternately listed as 390C>T [Amir et al. Nature Genet 23:185, 1999] |
| Amir,R., Van den Veyver, I. B., Wan, M., Tran, C., Francke, U. and Zoghbi, H. Y., Rett syndrome is caused by nutations in X-linked MECP2, encoding methyl-CpG-binding protein 2 Nat Genet23:185-188 1999 |
| PubMed ID: 10508514 |
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| Ellison, K. A., C. P. Fill, J. Terwilliger, L. J. Degennaro, A. Martin-Gallardo, M. Anvret, A. K. Percy, J. Ott, and H. Y. Zohgbi, Examination of X chromosome markers in Rett syndrome: Exclusion mapping with a novel variation on multilocus linkage analysis Am J Hum Genet50:278-287 1992 |
| PubMed ID: 1734712 |
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