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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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 |
L100V; RETT SYNDROME |
| Identified Mutation |
LEU100VAL |
| Remarks |
Clinically affected; also has triple X syndrome; normal growth parameters at birth; weak suck and poor weight gain in first few weeks of life; intestinal malrotation at 4 months; psychomotor development normal until 9 months when development slowed; walked at 16 months; head circumference and weight decreased at 6 months of age; regression of social skills evident at 20 months of age; bruxism, constipation and decreased sensitivity to pain developed at 21 months of age; significant delay in language development; no language and limited functional use of hands at age 6; MRI of cranium normal; EEG performed at 44 months showed intermittent occurence of epileptiform discharges, suggestive of partial seizures; supernumerary X chromosome is maternally derived; X-inactivation studies indicated preferential inactivation of the paternal allele; parental origin of MECP2 mutation could not be determined; donor subject has one allele that has a C>G transversion in the MBD coding region of the gene encoding methyl-CpG binding protein 2 (MECP2) resulting in a substitution of a valine for a leucine at codon 100 [Leu100Val (L100V)]. |
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