Description:
RETT SYNDROME; RTT
METHYL-CPG-BINDING PROTEIN 2; MECP2
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Disorders of the Nervous System |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
DNA from LCL
|
|
Race
|
White
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Molecular characterization before cell line submission to CCR
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Gene |
MECP2 |
| Chromosomal Location |
Xq28 |
| Allelic Variant 1 |
300005.0007; RETT SYNDROME |
| Identified Mutation |
THR158MET; In a sporadic patient with Rett syndrome (312750), Amir et al. [Nature Genet. 23: 185-188 (1999)] identified a C-to-T transition at nucleotide 547 of the MECP2 gene, resulting in a THR158-to-MET (T158M) substitution. |
| Remarks |
Clinically affected; some seizures, loss of purposeful hand use; repetitive hand motions; nonverbal; acquired microcephaly; small feet; some problems with circulation; constipation; some teeth grinding; EEG showed significant abnormalities; eating problems with some reflux; nonambulatory with jerky truncal ataxia; breath holding; balanced t(8;12) inherited from mother; in addition, the donor subject carries a C>T transition at nucleotide 473 (ACG>ATG) in exon 3 of the gene encoding methyl-CpG binding protein 2 (MECP2) resulting in the substitution of threonine 158 by methionine [THR158MET (T158M)] in the methyl-binding domain. |
| Horike S, Cai S, Miyano M, Cheng JF, Kohwi-Shigematsu T, Loss of silent-chromatin looping and impaired imprinting of DLX5 in Rett syndrome. Nat Genet37(1):31-40 2005 |
| PubMed ID: 15608638 |
|
|