Key result
Next-generation sequencing identifies causative mutations in ~80% of nemaline myopathy cases.
Why the study?
Nemaline Myopathy involves mutations in multiple genes, but comprehensive genetic screening in Spanish patients to confirm diagnosis was lacking.
Observational (n=5)
No
Next-generation sequencing identified novel mutations in NEB and ACTA1, aiding in the genetic confirmation of Nemaline Myopathy.
Nemaline Myopathy (NM) is a rare genetic disorder that encompasses a large spectrum of myopathies characterized by hypotonia and generalized muscle weakness. To date, mutations in thirteen different genes have been associated with NM. The most frequently responsible genes are NEB (50% of cases) and ACTA1 (15-25% of cases). In this report all known NM related genes were screened by Next Generation Sequencing in five Spanish patients in order to genetically confirm the clinical and histological diagnosis of NM. Four mutations in NEB (c.17779_17780delTA, c.11086A>C, c.21076C>T and c.2310+5G>A) and one mutation in ACTA1 (c.871A>T) were found in four patients. Three of the four mutations in NEB were novel. A cDNA sequencing assay of the novel variants c.17779_17780delTA, c.11086A>C and c.2310+5G>A revealed that the intronic variant c.2310+5G>A affected the splicing process. Mutations reported here could help clinicians and geneticists in NM diagnosis.
No takes yet. Share an insight, caveat, or question.
Lan et al. (2018) conducted an observational in Nemaline Myopathy (n=5). Next-Generation Sequencing was evaluated on Identification of pathogenic mutations in NM-related genes. Next-Generation Sequencing screening identified disease-causing mutations in NEB and ACTA1 genes in four out of five Spanish patients with Nemaline Myopathy, including three novel variants.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: