GM23625

GM23625 LCL from B-Lymphocyte

Description:

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

Affected:

Yes

Sex:

Female

Age:

25 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases
GeT-RM Samples

Biopsy Source

Peripheral vein

Cell Type

B-Lymphocyte

Tissue Type

Blood

Transformant

Epstein-Barr Virus

Sample Source

LCL from B-Lymphocyte

Race

White

Ethnicity

Not Hispanic/Latino

Family History

Relation to Proband

proband

Confirmation

Molecular characterization before cell line submission to CCR

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected; donor subject has a C>T transition at nucleotide 808 in exon 3 of the MECP2 gene (808C>T) resulting in a premature stop codon [Arg270Ter (R270X)]. Subject had surgery to correct scoliosis and G-tube insertion. Age at diagnosis = 2 1/4 years, age at onset = 1 year.

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by LINE assay

Gene

MECP2

Chromosomal Location

Xq28

Allelic Variant 1

300005.0005; RETT SYNDROME

Identified Mutation

ARG270TER; In 3 of 31 patients with Rett syndrome (312750), Huppke et al. (Hum Molec Genet 9:1369-1375,2000) identified an 808C-T transition in the MECP2 gene, resulting in a premature stop codon (arg270-to-ter; R270X) in exon 3. Bienvenu et al. (Hum Molec Genet 9:1377-1384,2000) found the same mutation in 5 of 46 Rett syndrome patients studied. De Bona et al. (Europ J Hum Genet 8:325-330,2000) identified the R270X mutation in 4 unrelated individuals with Rett syndrome, indicating that it represents a hotspot.

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