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 |
| 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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Race
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White
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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 Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Gene |
MECP2 |
| Chromosomal Location |
Xq28 |
| Allelic Variant 1 |
300005.0021; RETT SYNDROME |
| Identified Mutation |
ARG255TER; Cheadle et al. [Hum. Molec. Genet. 9: 1119-1129 (2000)], Bienvenu et al. [Hum. Molec. Genet. 9: 1377-1384 (2000)], and Huppke et al. [Hum. Molec. Genet. 9: 1369-1375 (2000)] each found an ARG255-to-TER (R255X) substitution in the methyl-CpG-binding protein in multiple patients with Rett syndrome (312750), caused by a 763C-to-T transition in exon 3 of the MECP2 gene. |
| Remarks |
Clinically affected; symptoms began at 6 months of age; head circumference deceleration; developmental delay; nonambulatory; nonverbal; no hand use; repetitive hand motions; rigidity/spasticity with low muscle tone; tremor; seizures; EEG showed minor abnormalities; eating difficulties with reflux; some teeth grinding; some constipation; breathing problems; slight spinal curve; small feet; circulation problems; history of leucomoid reaction; some sleep problems; the donor subject carries a C-to-T change at nucleotide 763 (CGA>TGA) in the gene encoding methyl-CpG binding protein 2 (MECP2) which results in an arginine-to-stop codon at position 255 [ARG255TER (R255X)]. |
| 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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| Carvalho CM, Camargos W, Pena SD, Multiplex protocol suitable for screening for MECP2 mutations in girls with mental retardation Clinical chemistry52:539-40 2006 |
| PubMed ID: 16510438 |
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