Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis.

ABSTRACT: Rare genetic disorders can go undiagnosed for years as the entire spectrum of phenotypic variation is not well characterized given the reduced number of patients reported in the literature and the low frequency at which these occur. Moreover, the current paradigm for clinical diagnostics defines disease diagnosis by a specified spectrum of phenotypic findings; when such parameters are either missing, or other findings not usually observed are seen, the phenotype driven approach to diagnosis may result in a specific etiological diagnosis not even being considered within the differential diagnosis. The novel implementation of genomic sequencing approaches to investigate rare genetic disorders is allowing not only the discovery of new genes, but also the phenotypic expansion of known Mendelia

SUBMITTER: Prada CE 

PROVIDER: S-EPMC4065856 | biostudies-literature | 2014 Jul

REPOSITORIES: biostudies-literature