A recurrent copy number variation of the NEB triplicate region: only revealed by the targeted nemaline myopathy CGH array.

ABSTRACT: Recently, new large variants have been identified in the nebulin gene (NEB) causing nemaline myopathy (NM). NM constitutes a heterogeneous group of disorders among the congenital myopathies, and disease-causing variants in NEB are a main cause of the recessively inherited form of NM. NEB consists of 183 exons and it includes homologous sequences such as a 32-kb triplicate region (TRI), where eight exons are repeated three times (exons 82-89, 90-97, 98-105). In human, the normal copy number of NEB TRI is six (three copies in each allele). Recently, we described a custom NM-CGH microarray designed to detect copy number variations (CNVs) in the known NM genes. The array has now been updated to include all the currently known 10 NM genes. The NM-CGH array is superior in detecting CNVs, especia

SUBMITTER: Kiiski K 

PROVIDER: S-EPMC4929883 | biostudies-literature | 2016 Apr

REPOSITORIES: biostudies-literature