GM16405

GM16405 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

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

Ethnicity

JEWISH

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; loss of purposeful hand use; repetitive hand motions; acquired microcephaly; developmental delay; nonverbal; eating difficulties with reflux; teeth grinding; no seizures; some tremor; wide-based apractic gait; hyperventilation; diffuse hypotonia; circulation problems; cranial MRI showed deep left frontal sulci; deep tendon reflexes are 1-2+ with bilateral plantar flexion; slight spinal curve; the donor subject carries a G>A transition at nucleotide 481 in the gene encoding methyl-CpG binding protein 2 (MECP2) resulting in the substitution of the conserved amino acid glycine 161 by valine [GLY161VAL (G161V)] in the methyl-binding 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

G161V; RETT SYNDROME

Identified Mutation

GLY161VAL

Phenotypic Data

Remarks

Publications

Horike S, Cai S, Miyano M, Cheng JF, Kohwi-Shigematsu T, Loss of silent-chromatin looping and impaired imprinting of DLX5 in Rett syndrome. Nat Genet37(1):31-40 2005

PubMed ID: 15608638