Key result
Case report identifies two novel NEB mutations in a boy with nemaline myopathy type 2.
Case Report (n=1)
No
The identification of novel compound heterozygous mutations in the NEB gene expands the known genetic spectrum of nemaline myopathy type 2 and supports genetic counseling for affected families.
Should not yet change practice; leaves open broader NEB spectrum expansion pending validation in additional cases.
Nemaline myopathy is a type of the heterogeneous group of congenital myopathies. Generalized hypotonia, weakness, and delayed motor development are the main clinical features of the typical congenital form. Histopathology shows characteristic nemaline rods in the muscle biopsy. Mutations in at least 7 genes, including nebulin gene (NEB), proved to be responsible for this muscle disease. We present a boy with nemaline myopathy type 2 (NEM2) caused by compound heterozygosity for 2 novel mutations, a deletion and a duplication in the NEB gene. The deletion was inherited from the father and the duplication from the mother. Testing all family members supports genetic counseling.
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Gajda et al. (2013) conducted a case report in Nemaline Myopathy Type 2 (NEM2) (n=1). NEB gene mutations (c.24527_24528delCT and c.24250_24253dupGTCA) vs. Wild type alleles (in unaffected family members) was evaluated on Identification of genetic mutations. A boy with nemaline myopathy type 2 was found to have compound heterozygosity for two novel mutations in the NEB gene, a deletion inherited from the father and a duplication from the mother.
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