GM27125

GM27125 LCL from B-Lymphocyte

Description:

MYOPATHY, CENTRONUCLEAR, 1; CNM1
TITIN; TTN
CARDIOMYOPATHY DILATED 1G; CMD1G

Affected:

Yes

Sex:

Female

Age:

49 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases
Muscular Dystrophies
CMD Specific
PIGI Consented Sample

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

Ethnicity

Polish, French, English, Irish

Country of Origin

USA

Family Member

Family History

Relation to Proband

aunt

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected; mild to moderate dilated cardiomyopathy; maximum motor function achieved is running with both feet leaving the ground; climbs at least 4 stairs without handrail; heterozygous mutation in intron 191 of TTN gene, NM_001267550.1: c.37112G>A; son and daughter (not in repository) both have the same TTN mutation, but no dilated cardiomyopathy; daughter has mild low tone, and sleep apnea, and uses BiPAP; aunt of proband GM23417 [(lymphoblast)/GM25936 (fibroblast)] affected with centronuclear myopathy and having the same mutation in TTN, c.37112G>A; sister with with mild dilated cardiomyopathy and same mutation is GM25951 (lymph), mother of affected nephew.

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by LINE assay

Gene

TTN

Chromosomal Location

2q31.2

Allelic Variant 1

; CENTRONUCLEAR MYOPATHY 1

Identified Mutation

37112-1G>A (IVS191-1G>A); Titin, or connectin, is a giant muscle protein expressed in the cardiac and skeletal muscles that spans half of the sarcomere from Z line to M line. Titin plays a key role in muscle assembly, force transmission at the Z line, and maintenance of resting tension in the I band region (Itoh-Satoh et al., 2002).