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NA16480 DNA from LCL

Description:

RETT SYNDROME; RTT
METHYL-CPG-BINDING PROTEIN 2; MECP2

Affected:

Yes

Sex:

Female

Age:

14 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
GeT-RM Samples
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 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.

Characterizations

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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
 
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.

Phenotypic Data

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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.

Publications

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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

External Links

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dbSNP dbSNP ID: 12363
Gene Cards MECP2
Gene Ontology GO:0000122 negative regulation of transcription from Pol II promoter
GO:0003677 DNA binding
GO:0003714 transcription corepressor activity
GO:0005634 nucleus
GO:0006355 regulation of transcription, DNA-dependent
NCBI Gene Gene ID:4204
NCBI GTR 300005 METHYL-CpG-BINDING PROTEIN 2; MECP2
312750 RETT SYNDROME; RTT
OMIM 300005 METHYL-CpG-BINDING PROTEIN 2; MECP2
312750 RETT SYNDROME; RTT
Omim Description AUTISM, DEMENTIA, ATAXIA, AND LOSS OF PURPOSEFUL HAND USE
  RETT SYNDROME; RTT
  RTS
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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  • GM16480 - B-Lymphocyte
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