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 |
| 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 |
MECP2 |
| Chromosomal Location |
Xq28 |
| Allelic Variant 1 |
300005.0003; RETT SYNDROME |
| Identified Mutation |
806delG; In a woman with motor coordination problems, mild learning disability, and skewed X inactivation, Wan et al. (Am J Hum Genet 65:1520-1529,1999) identified a 1-bp deletion (806delG) in the MECP2 gene, resulting in a val288-to-ter (V288X) substitution in the transcription repression domain. The same mutation was found in her sister and daughter, who were affected with classic Rett syndrome (312750), and in her hemizygous son, who died from congenital encephalopathy (300673). |
| Remarks |
Clinically affected; classic phenotype; donor subject has a 1 bp deletion at nucleotide 806 in exon 3 of the MECP2 gene (806delG) resulting in a premature stop codon at 288 [Val288Ter (V288X)] |
| Wan M, Lee SS, Zhang X, Houwink-Manville I, Song HR, Amir RE, Budden S, Naidu S, Pereira JL, Lo IF, Zoghbi HY, Schanen NC, Francke U, Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots American journal of human genetics65:1520-9 1999 |
| PubMed ID: 10577905 |
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