GM11304

GM11304 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

proband

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected; donor subject is heterozygous for an C>T transition at nucleotide 880 in the MECP2 (880C>T) gene resulting in an arg294-to-ter [ARG294TER (R294X)] nonsense mutation; LCL expressing the mutant allele did not affect the imprinting status of DLX5, which is a maternally expressed gene.

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

300005.0011; RETT SYNDROME

Identified Mutation

ARG294TER; DeBona et al. [Europ. J. Hum. Genet. 8: 325-330 (2000)] identified an 880C-T transition in the MECP2 gene, leading to an arg294-to-ter (R294X) nonsense mutation in four unrelated patients with Rett Syndrome, thus indicating that this represents a hot spot.

Phenotypic Data

Remarks

Publications

Caballero M, Ge T, Rebelo AR, Seo S, Kim S, Brooks K, Zuccaro M, Kanagaraj R, Vershkov D, Kim D, Smogorzewska A, Smolka M, Benvenisty N, West SC, Egli D, Mace EM, Koren A, Comprehensive analysis of DNA replication timing across 184 cell lines suggests a role for MCM10 in replication timing regulation Human molecular genetics: 2021

PubMed ID: 35394024

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

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

Amir RE, Van den Veyver IB, Schultz R, Malicki DM, Tran CQ, Dahle EJ, Philippi A, Timar L, Percy AK, Motil KJ, Lichtarge O, Smith EO, Glaze DG, Zoghbi HY, Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes. Ann Neurol47:670-9 2000

PubMed ID: 10805343