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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Ethnicity
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JEWISH
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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 |
G161V; RETT SYNDROME |
| Identified Mutation |
GLY161VAL |
| Remarks |
Clinically affected; symptoms began at 6 months of age; loss of purposeful hand use; repetitive hand motions; acquired microcephaly; developmental delay; nonverbal; eating difficulties with reflux; teeth grinding; no seizures; some tremor; wide-based apractic gait; hyperventilation; diffuse hypotonia; circulation problems; cranial MRI showed deep left frontal sulci; deep tendon reflexes are 1-2+ with bilateral plantar flexion; slight spinal curve; the donor subject carries a G>A transition at nucleotide 481 in the gene encoding methyl-CpG binding protein 2 (MECP2) resulting in the substitution of the conserved amino acid glycine 161 by valine [GLY161VAL (G161V)] in the methyl-binding domain. |
| Horike S, Cai S, Miyano M, Cheng JF, Kohwi-Shigematsu T, Loss of silent-chromatin looping and impaired imprinting of DLX5 in Rett syndrome. Nat Genet37(1):31-40 2005 |
| PubMed ID: 15608638 |
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