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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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 |
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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; abnormal EEG and sleep patterns; ambulatory with assistance; breath holding and teeth grinding; loss of purposeful hand use; nonverbal; repetitive hand motions; scoliosis; seizures; muscle rigidity; spasticity; joint contractures; growth retardation; donor subject has a 763C>T nonsense mutation in exon 4 of the gene encoding methyl-CpG binding protein 2 (MECP2), resulting in a substitution of a stop codon for a conserved arginine at codon 255 [ARG255TER (R255X)] in the transcriptional-repression (TRD) functional domain. |
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