Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants.

ABSTRACT:

Background

Cellular cobalamin defects are a locus and allelic heterogeneous disorder. The gold standard for coming to genetic diagnoses of cobalamin defects has for some time been gene-by-gene Sanger sequencing of individual DNA fragments. Enzymatic and cellular methods are employed before such sequencing to help in the selection of the gene defects to be sought, but this is time-consuming and laborious. Furthermore some cases remain undiagnosed because no biochemical methods have been available to test for cobalamin absorption and transport defects.

Results

This paper reports the use of massive parallel sequencing of DNA (exome analysis) for the accurate and rapid genetic diagnosis of cobalamin-related defects in a cohort of affected patients. The method was first validated

SUBMITTER: Brasil S 

PROVIDER: S-EPMC6057060 | biostudies-literature | 2018 Jul

REPOSITORIES: biostudies-literature