GM26181

GM26181 LCL from B-Lymphocyte

Description:

NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE; NEM2
NEBULIN; NEB

Affected:

Yes

Sex:

Female

Age:

6 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

Country of Origin

USA

Family History

Relation to Proband

proband

Confirmation

Molecular characterization before cell line submission to CCR

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected with congenital nemaline rod myopathy; holds head up, sits and walks without assistance and has maintained these motor functions; subject has never been able to run; diagnosis has been confirmed by muscle biopsy, muscle imaging, and Nextgen sequencing with a congenital myopathy panel; normal brain MRI; donor is heterozygous in the NEB gene for two likely pathogenic variants: c.5238+1G>A (predicted to completely abolish the donor splice site and likely result in aberrant splicing) and c.24313_24317dupGTGTT (predicted to result in a frameshift and premature protein termination p.Tyr8107Cysfs*75); based on the data from several prediction programs, both variants are expected to be pathogenic.

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by LINE assay

Gene

NEB

Chromosomal Location

2q23.3

Allelic Variant 1

Frameshift; NEMALINE MYOPATHY 2; NEM2

Identified Mutation

c.24313_24317dupGTGTT; This variant is predicted to result in a frameshift and premature protein termination.

Gene

NEB

Chromosomal Location

2q23.3

Allelic Variant 1

Splicing defect; NEMALINE MYOPATHY 2; NEM2

Identified Mutation

c.5238+1G>A; This variant lies in the canonical donor splice site at the exon/intron border. Prediction programs indiciate variant will completely abolish the donor splice site and likely result in aberrant splicing.