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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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 |
S134C; RETT SYNDROME |
| Identified Mutation |
SER134CYS |
| Remarks |
Clinically affected; seizures; ambulatory; occasional irritability and agitation; loss of purposeful hand use; repetitive hand motions; period of normal development until 6-8 months; affected brother is GM17538; mother is GM17539; mother is clinically unaffected but carries same mutation as her two affected children; donor subject carries a missense mutation (C>G) at nucleotide 401 (401C>G) in the gene encoding methyl-CpG binding protein 2 (MECP2), resulting in a substitution of a cysteine for a serine at amino acid 134 [SER134CYS (S134C)]. |
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