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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Race
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More than one race
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Ethnicity
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FILIPINO/CAUCASIAN
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Family Member
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1
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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 |
| |
| Gene |
MECP2 |
| Chromosomal Location |
Xq28 |
| Allelic Variant 1 |
300005.0020; RETT SYNDROME |
| Identified Mutation |
ARG168TER; Wan et al. [Hum. Genet. 65: 1520-1529 (1999)] identified an arg168-to-ter (R168X) mutation in the MECP2 gene in 6 unrelated sporadic cases of Rett syndrome, as well as in 2 affected sisters and their normal mother. |
| Remarks |
Clinically affected; first signs observed at 6 months of age; no hand use; repetitive hand motions; non-verbal; cannot walk; occasional breathing problems; seizures; EEG has minor abnormalities; major eating difficulties; minor gastroesophageal reflux; back has slight curve; small feet; occasional problem with circulation; occasional tremors; some sleep difficulties; donor subject is heterozygous for a 502C>T transition in the MECP2 gene resulting in a premature stop at codon 168 [Arg168Ter (R168X)] |
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