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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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 |
300005.0011; RETT SYNDROME |
| Identified Mutation |
ARG294TER; DeBona et al. [Europ. J. Hum. Genet. 8: 325-330 (2000)] identified an 880C-T transition in the MECP2 gene, leading to an arg294-to-ter (R294X) nonsense mutation in four unrelated patients with Rett Syndrome, thus indicating that this represents a hot spot. |
| Remarks |
Clinically affected; symptoms began at age 6 months; significantly abnormal EEG; breath holding; constipation, growth and mental retardation; limited purposeful hand use; nonverbal; repetitive hand motions; agitation; scoliosis; seizures; some tremors and teeth grinding; small hands and feet; severely microcephalic; gait apraxia and ataxia; donor subject is heterozygous for an 880C>T transition in the MECP2 gene resulting in an arg294-to-ter [ARG294TER (R294X)] nonsense mutation. |
| Kalman LV, Tarleton JC, Percy AK, Aradhya S, Bale S, Barker SD, Bayrak-Toydemir P, Bridges C, Buller-Burckle AM, Das S, Iyer RK, Vo TD, Zvereff VV, Toji LH., Development of a Genomic DNA Reference Material Panel for Rett Syndrome (MECP2-Related Disorders) Genetic Testing. J Mol Diagn.16 (2):273-9 2014 |
| PubMed ID: 24508304 |
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