GM23507

GM23507 LCL from B-Lymphocyte

Description:

MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A; MDC1A
LAMININ, ALPHA-2; LAMA2

Affected:

Yes

Sex:

Male

Age:

3 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases
Muscular Dystrophies
CMD Specific

Class

Congenital Muscle Diseases

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

Family History

Relation to Proband

proband

Confirmation

Molecular characterization before cell line submission to CCR

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected; abnormal creatine kinase, 2099 umol/L; diagnostic muscle biopsy showed fiber Type I predominance with negative staining for merosin and normal staining for alpha dystoglycan and Collagen VI;generalized hypotonia; gross motor developmental delays; bilateral equinus ankle contractures with varus tendencies of his feet (right worse than left) - unable to tolerate serial casting; dysphagia; contractures; scoliosis; poor sleep; at risk for hypoventilation and aspiration; held head up without assistance by age 6 months; turned in bed by age 2 years; sat without assistance at 3 years of age; donor subject is a compound heterozygote: one allele has a C>A transversion at nucleotide 2901 in exon 21 of the LAMA2 gene (c.2901C>A) predicted to result in premature protein termination [Cys967Ter (C967X)]. This mutation is reported to be causative for merosin-deficient CMD. The second allele has a G>T transversion at the junction of exon 45 and intron 45 (c.6429+1G>T) expected to disrupt normal splicing and to be causative for this disorder.