Abstract
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.
Highlights
Nemaline Myopathy (NM) is a rare muscular disorder clinically and genetically heterogeneous which represents about 17% of all congenital myopathies [1]
They suffered from a congenital myopathy; the presence of rods in the biopsy was demonstrated in all patients using standard histological and histochemical techniques [10] (S1 Fig)
Next Generation Sequencing (NGS) sequencing in a small NM cohort was carried out
Summary
Nemaline Myopathy (NM) is a rare muscular disorder clinically and genetically heterogeneous which represents about 17% of all congenital myopathies [1]. The estimated incidence in the general population is one in 50,000 live births [2]. NM is characterized by hypotonia and generalized muscle weakness, more severe in the face, neck and limbs muscles. There is usually an overlap between different types, NM is clinically divided into six types depending on the onset and the severity of motor and respiratory involvement: severe congenital form. NGS and Nemaline Myopathy collection and analysis, decision to publish, or preparation of the manuscript
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