1. Germinal mosaicism for LMNA mimics autosomal recessive congenital muscular dystrophy.
- Author
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Makri S, Clarke NF, Richard P, Maugenre S, Demay L, Bonne G, and Guicheney P
- Subjects
- Adolescent, Algeria, Child, Chromosome Disorders genetics, DNA Mutational Analysis, Diagnosis, Differential, Female, Genes, Recessive genetics, Genetic Testing, Genotype, Humans, Inheritance Patterns genetics, Muscle, Skeletal pathology, Muscle, Skeletal physiopathology, Muscular Diseases congenital, Muscular Dystrophies diagnosis, Muscular Dystrophies genetics, Pedigree, Phenotype, Sequence Analysis, DNA standards, Lamin Type A genetics, Mosaicism, Muscle, Skeletal metabolism, Muscular Diseases diagnosis, Muscular Diseases genetics, Mutation genetics
- Abstract
Life-threatening cardiac and respiratory complications are common in LMNA-related myopathies and early diagnosis is important for optimal patient care. Lamin A/C related congenital muscular dystrophy (L-CMD) is often caused by de novo mutation in LMNA, affecting a single child in a family. Germinal mosaicism is a rarer variant that can lead to two children inheriting the same new heterozygous mutation from a clinically unaffected parent. Both patterns mimic autosomal recessive (AR) inheritance and the possibility of de novo L-CMD may be forgotten since most causes of congenital muscular dystrophy follow AR inheritance. To illustrate the challenge of diagnosing L-CMD, we present a consanguineous family in which two children have early onset LMNA-related myopathy likely due to paternal germinal mosaicism. This emphasises that germinal mosaicism (and de novo mutations) for LMNA can arise in any family and direct gene sequencing is required to confirm or exclude the diagnosis.
- Published
- 2009
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