Genome Sequencing Identifies the Pathogenic Variant Missed by Prior Testing in an Infant with Marfan Syndrome.

ABSTRACT: We describe an infant with a phenotype typical of early onset Marfan syndrome whose genetic evaluation, including Sanger sequencing and deletion/duplication testing of FBN1 and exome sequencing, was negative. Ultimately, genome sequencing revealed a deletion missed on prior testing, demonstrating the unique utility of genome sequencing for molecular genetic diagnosis.

SUBMITTER: Wojcik MH 

PROVIDER: S-EPMC6765408 | biostudies-literature | 2019 Oct

REPOSITORIES: biostudies-literature