Screening for deletion and duplication mutations in genes implicated in LGMD

Abstract

LGMD is predominantly inherited in an autosomal recessive manner; however autosomal dominant and X-linked subtypes have also been described. To date, most mutations that have been reported in LGMD patients have been point mutations, and these lie in approximately 17 genes. There are occasional reports of deletions in autosomal recessive LGMD genes, often only discovered when a single point mutation has been found in a gene known to cause autosomal recessive LGMD. We sought to determine whether deletions and duplications are a common cause of LGMD that have been routinely missed by standard sequencing approaches. We designed a bespoke Roche Nimblegen 12x135K CGH array that allowed for the sim..