Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.

ABSTRACT: Neurometabolic disorders are markedly heterogeneous, both clinically and genetically, and are characterized by variable neurological dysfunction accompanied by suggestive neuroimaging or biochemical abnormalities. Despite early specialist input, delays in diagnosis and appropriate treatment initiation are common. Next-generation sequencing approaches still have limitations but are already enabling earlier and more efficient diagnoses in these patients. We designed a gene panel targeting 614 genes causing inborn errors of metabolism and tested its diagnostic efficacy in a paediatric cohort of 30 undiagnosed patients presenting with variable neurometabolic phenotypes. Genetic defects that could, at least partially, explain observed phenotypes were identified in 53% of cases. Where biochemica

SUBMITTER: Reid ES 

PROVIDER: S-EPMC5091046 | biostudies-literature | 2016 Nov

REPOSITORIES: biostudies-literature