Genetic disorders of lung development

In this volume of The Journal is a report of 2 infants with severe congenital lung disease associated with mutations in TBX4. Infant A had fatal lung disease in the early neonatal period. The other infant required significant clinical interventions, including ECMO, but is surviving with residual lung disease. The genetic analyses included whole exome sequencing on patient A and extensive molecular testing on patient B including an microarray which demonstrated deletion of the entire region containing TBX4 and TBX2 as well as exome sequencing of a gene panel for infants with congenital lung disease.
Source: The Journal of Pediatrics - Category: Pediatrics Authors: Tags: The Editors' Perspectives Source Type: research