An international consortium of researchers, including two French scientists, studied possible correlations between genotype and phenotype in the context of myopathies linked to the NEB gene encoding nebulin:
- the triplicated part of the gene (exons 82 to 105) was studied in particular,
- 35 families were genotyped using different methods (NGS – whole exomes and genomes, CGH–array, PCR, and Sanger) and compared both clinically and biologically,
- 23 presented an autosomal recessive form, mainly in the form of compound heterozygosity, more rarely in a homozygousform,
- 8 of these were new families,
- in these groups, no genotype-phenotype correlation could be established,
- 12 other families had autosomal dominant transmission and 8 of them had large deletions in the triplicated region of the NEB gene and a clearly distal muscle deficit.
This work illustrates the complexity of the NEB gene and its high phenotypic variability.
