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 |
Q244X; RETT SYNDROME |
| Identified Mutation |
GLU244TER |
| Remarks |
Clinically affected; abnormal sleep patterns; ambulatory; breath holding; constipation; decelerating head circumference; loss of purposeful hand use; nonverbal; poor hand and feet circulation; repetitive hand motions; self injurious behavior; small feet; teeth grinding; tremors; GM16548 fibroblast from the same donor; donor subject is heterozygous for a 730C>T transition in the MECP2 gene resulting in the substitution of a stop codon for a conserved glutamine [GLU244TER (Q244X)]. |
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