Description:
MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A; MDC1A
LAMININ, ALPHA-2; LAMA2
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Muscular Dystrophies
CMD Specific |
| Class |
Congenital Muscle Diseases |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Ethnicity
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Not Hispanic/Latino
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Family History
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N
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Relation to Proband
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proband
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Confirmation
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Molecular characterization before cell line submission to CCR
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| Gene |
LAMA2 |
| Chromosomal Location |
6q22-q23 |
| Allelic Variant 1 |
156225.0013; MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A |
| Identified Mutation |
CYS967TER |
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| Gene |
LAMA2 |
| Chromosomal Location |
6q22-q23 |
| Allelic Variant 2 |
; MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A |
| Identified Mutation |
6429+1G>T |
| 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. |
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