GM11300

GM11300 LCL from B-Lymphocyte

Description:

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

Affected:

Yes

Sex:

Female

Age:

No Data

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

Family Member

Relation to Proband

half-sister

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected; donor subject carries a missense mutation, 316C>T, in the gene encoding methyl-CpG binding protein 2 (MECP2) resulting in the change of a conserved amino acid [ARG106TRP (R106W)] in the methyl-binding domain. This mutation was alternately listed as 390C>T [Amir et al. Nature Genet 23:185, 1999]

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

300005.0008; RETT SYNDROME

Identified Mutation

ARG106TRP; In 2 affected half sisters of a family with Rett syndrome (312750), Amir et al. [Nature Genet. 23: 185-188 (1999)] identified a C-to-T transition at nucleotide 390 of the MECP2 gene, resulting in an ARG106-to-TRP substitution.

Phenotypic Data

Remarks

Publications

Amir,R., Van den Veyver, I. B., Wan, M., Tran, C., Francke, U. and Zoghbi, H. Y., Rett syndrome is caused by nutations in X-linked MECP2, encoding methyl-CpG-binding protein 2 Nat Genet23:185-188 1999

PubMed ID: 10508514

Ellison, K. A., C. P. Fill, J. Terwilliger, L. J. Degennaro, A. Martin-Gallardo, M. Anvret, A. K. Percy, J. Ott, and H. Y. Zohgbi, Examination of X chromosome markers in Rett syndrome: Exclusion mapping with a novel variation on multilocus linkage analysis Am J Hum Genet50:278-287 1992

PubMed ID: 1734712