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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Molecular characterization before cell line submission to CCR
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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 |
300005.0016; RETT SYNDROME |
| Identified Mutation |
ARG306CYS; In 2 unrelated patients with Rett syndrome (312750), Bourdon et al. [Hum. Genet. 108: 43-50 (2001)] found a 916C-T transition in exon 3 of the MECP2 gene resulting in an arg306-to-cys (R306C) amino acid change. |
| Remarks |
Clinically affected; onset at 18 months of age; diagnosed at age 3; EEG showed minor abnormalities; breath holding, swallowing difficulties; growth retardation; limited purposeful hand use; muscle rigidity; some repetitive hand motions; speaks using single words; some circulation problems; occasional tremors; no scoliosis; seizures; small feet; teeth grinding; donor subject has a 916C-T (916C>T) transition in exon 3 of the MECP2 gene resulting in an arg306-to-cys [ARG306CYS (R306C)] amino acid change. |
| 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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