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

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.

Source: The Journal of Pediatrics - June 20, 2019 Category: Pediatrics Authors: Monica H. Wojcik, Katri Thiele, Carly F. Grant, Katherine Chao, Julia Goodrich, Anne O'Donnell-Luria, Ronald V. Lacro, Wen-Hann Tan, Pankaj B. Agrawal Tags: Brief Reports Source Type: research