GM25251

GM25251 Fibroblast

Description:

NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE; NEM2
NEBULIN; NEB

Affected:

Yes

Sex:

Female

Age:

5 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases
Muscular Dystrophies
CMD Specific
PIGI Consented Sample

Cell Type

Fibroblast

Tissue Type

Skin

Transformant

Untransformed

Race

White

Ethnicity

Not Hispanic/Latino

Ethnicity

German, Scottish, Irish

Country of Origin

USA

Family Member

Family History

Relation to Proband

proband

Confirmation

Molecular characterization before cell line submission to CCR

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected; symptom onset at birth; diagnosed at age 18 months; hypotonia from birth; failure to thrive; developmental delay; respiratory failure, acute and chronic; ventilator dependent; cardiac murmurs; speech impairment; maximum motor function achieved: walk with assistance; echocardiogram performed with no outstanding findings; muscle biopsy of left thigh revealed myopathy with abundant nemaline rods; sequencing of the NEB gene revealed subject is compound heterozygous for two pathogenic mutations: c.8425C>T resulting in a premature protein termination (p.Arg2809Stop) in exon 61 and c.24317T>A resulting in a premature protein termination (p.Leu8106Stop) in exon 172; treatments: physical therapy, occupational therapy, psychological therapy, speech language therapy; medications: Flovent, Zyrtec, Albuterol PRN; surgeries: tracheostomy, g-tube, Vertical Expandable Prosthetic Titanium Rib (VEPTR); assistive devices: wheelchair, braces, orthotics; see lymphoblast GM25250.

Characterizations

PDL at Freeze

2.92

Passage Frozen

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by LINE assay

Gene

NEB

Chromosomal Location

2q23.3

Allelic Variant 1

R2809*; NEMALINE MYOPATHY 2 (NEM2)

Identified Mutation

ARG2809*; Nebulin is a giant protein component of the cytoskeletal matrix that coexists with the thick and thin filaments within the sarcomeres of skeletal muscle. In most vertebrates, nebulin accounts for 3 to 4% of the total myofibrillar protein and its size varies from 600 to 800 kD in a manner that is tissue-, species-, and developmental stage-specific (Stedman et al., 1988). A variety of nebulin isoforms are thought to contribute to the molecular diversity of Z discs (Pelin et al., 1999).

Gene

NEB

Chromosomal Location

2q23.3

Allelic Variant 1

LEU8106*; NEMALINE MYOPATHY 2 (NEM2)

Identified Mutation

LEU8106*; Nebulin is a giant protein component of the cytoskeletal matrix that coexists with the thick and thin filaments within the sarcomeres of skeletal muscle. In most vertebrates, nebulin accounts for 3 to 4% of the total myofibrillar protein and its size varies from 600 to 800 kD in a manner that is tissue-, species-, and developmental stage-specific (Stedman et al., 1988). A variety of nebulin isoforms are thought to contribute to the molecular diversity of Z discs (Pelin et al., 1999).