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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AUSTRIAN
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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 |
; RETT SYNDROME |
| Identified Mutation |
705delG |
| Remarks |
Clinically affected; microcephaly; scoliosis diagnosed at age 12; severe kyphoscoliosis at age 25; early milestones were slow; started losing skills at age 2; currently severely retarded; behavioral phenotype includes hand wringing that began at age 2 and became more intense; no sleep problems; no self-injurious behavior; abnormal EEG; CT scan at age 25 showed evidence of atrophy; donor subject carries a frameshift mutation, 705delG, in the gene encoding methyl-CpG binding protein 2 (MECP2); see GM07982 fibroblast. |
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