"Genotype-first" approaches on a curious case of idiopathic progressive cognitive decline.

ABSTRACT:

Background

In developing countries, many cases with rare neurological diseases remain undiagnosed due to limited diagnostic experience. We encountered a case in China where two siblings both began to develop idiopathic progressive cognitive decline starting from age six, and were suspected to have an undiagnosed neurological disease.

Methods

Initial clinical assessments included review of medical history, comprehensive physical examination, genetic testing for metabolic diseases, blood tests and brain imaging. We performed exome sequencing with Agilent SureSelect exon capture and Illumina HiSeq2000 platform, followed by variant annotation and selection of rare, shared mutations that fit a recessive model of inheritance. To assess functional impacts of candidate variants, we

SUBMITTER: Shi L 

PROVIDER: S-EPMC4267425 | biostudies-literature | 2014 Dec

REPOSITORIES: biostudies-literature