GM23506

GM23506 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

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; abnormal creatine phosphokinase (2195); other testing includes: muscle biopsy and abnormal brain MRI (diffuse white matter changes detected); mild speech delays which have resolved; rolled over at 9 months; held up head up without assistance and sat for short periods at 12 months; unable to stand; hypotonia and muscle weakness; mild left hip dislocation; contractures of fingers and ankles; rigid spine and mild scoliosis; macrocephaly (head circumference = 55cm); heterozygous in exon 61 of the LAMA2 gene for a mutation defined as c.8669dupT (predicted to result in frameshift and premature protein termination); also heterozygous for a variant of uncertain significance in exon 17 (c.2370 T>A) - this variant does not change the amino acid (p.Pro790Pro) but may interfere with exon splicing according to predictive modeling (fruitfly.org); also heterozygous for another variant of uncertain significance in exon 38 (c.5530C>A) which is predicted to result in the amino acid substitution p.Arg1844Ser - based on available evidence and modeling, this change is predicted to be benign; mother is carrier for frameshift mutation (not in repository) and father is carrier for exon 17 mutation (not in repository).