GM16270

GM16270 LCL from B-Lymphocyte

Description:

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

Affected:

Yes

Sex:

Female

Age:

6 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases
GeT-RM Samples

Class

Disorders of the Nervous System

Biopsy Source

Peripheral vein

Cell Type

B-Lymphocyte

Tissue Type

Blood

Transformant

Epstein-Barr Virus

Sample Source

LCL from B-Lymphocyte

Race

White

Relation to Proband

proband

Confirmation

Molecular characterization before cell line submission to CCR

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected; symptoms began at 6 months of age; head circumference deceleration; developmental delay; nonambulatory; nonverbal; no hand use; repetitive hand motions; rigidity/spasticity with low muscle tone; tremor; seizures; EEG showed minor abnormalities; eating difficulties with reflux; some teeth grinding; some constipation; breathing problems; slight spinal curve; small feet; circulation problems; history of leucomoid reaction; some sleep problems; the donor subject carries a C-to-T change at nucleotide 763 (CGA>TGA) in the gene encoding methyl-CpG binding protein 2 (MECP2) which results in an arginine-to-stop codon at position 255 [ARG255TER (R255X)].

Characterizations

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

300005.0021; RETT SYNDROME

Identified Mutation

ARG255TER; Cheadle et al. [Hum. Molec. Genet. 9: 1119-1129 (2000)], Bienvenu et al. [Hum. Molec. Genet. 9: 1377-1384 (2000)], and Huppke et al. [Hum. Molec. Genet. 9: 1369-1375 (2000)] each found an ARG255-to-TER (R255X) substitution in the methyl-CpG-binding protein in multiple patients with Rett syndrome (312750), caused by a 763C-to-T transition in exon 3 of the MECP2 gene.

Phenotypic Data

Remarks

Publications

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

Carvalho CM, Camargos W, Pena SD, Multiplex protocol suitable for screening for MECP2 mutations in girls with mental retardation Clinical chemistry52:539-40 2006

PubMed ID: 16510438