GM16497

GM16497 LCL from B-Lymphocyte

Description:

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

Affected:

Yes

Sex:

Female

Age:

13 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases

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

Family Member

Relation to Proband

proband

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected; abnormal EEG and sleep patterns; ambulatory with assistance; breath holding and teeth grinding; loss of purposeful hand use; nonverbal; repetitive hand motions; scoliosis; seizures; muscle rigidity; spasticity; joint contractures; growth retardation; donor subject has a 763C>T nonsense mutation in exon 4 of the gene encoding methyl-CpG binding protein 2 (MECP2), resulting in a substitution of a stop codon for a conserved arginine at codon 255 [ARG255TER (R255X)] in the transcriptional-repression (TRD) functional domain.

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.