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
GeT-RM Samples |
| 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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Ethnicity
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Not Hispanic/Latino
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Family History
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N
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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 |
300005.0005; RETT SYNDROME |
| Identified Mutation |
ARG270TER; In 3 of 31 patients with Rett syndrome (312750), Huppke et al. (Hum Molec Genet 9:1369-1375,2000) identified an 808C-T transition in the MECP2 gene, resulting in a premature stop codon (arg270-to-ter; R270X) in exon 3. Bienvenu et al. (Hum Molec Genet 9:1377-1384,2000) found the same mutation in 5 of 46 Rett syndrome patients studied. De Bona et al. (Europ J Hum Genet 8:325-330,2000) identified the R270X mutation in 4 unrelated individuals with Rett syndrome, indicating that it represents a hotspot. |
| Remarks |
Clinically affected; symptom onset age 1 ½ years; diagnosed at age 20; donor subject has a C>T transition at nucleotide 808 in exon 3 of the MECP2 gene resulting in a stop at codon 270 [Arg270Ter (R270X)]. |
| Kalman LV, Tarleton JC, Percy AK, Aradhya S, Bale S, Barker SD, Bayrak-Toydemir P, Bridges C, Buller-Burckle AM, Das S, Iyer RK, Vo TD, Zvereff VV, Toji LH., Development of a Genomic DNA Reference Material Panel for Rett Syndrome (MECP2-Related Disorders) Genetic Testing. J Mol Diagn.16 (2):273-9 2014 |
| PubMed ID: 24508304 |
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