Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locus.

ABSTRACT: During human organogenesis, lung development is a timely and tightly regulated developmental process under the control of a large number of signaling molecules. Understanding how genetic variants can disturb normal lung development causing different lung malformations is a major goal for dissecting molecular mechanisms during embryogenesis. Here, through exome sequencing (ES), array CGH, genome sequencing (GS) and Hi-C, we aimed at elucidating the molecular basis of bilateral isolated lung agenesis in three fetuses born to a non-consanguineous family. We detected a complex genomic rearrangement containing duplicated, triplicated and deleted fragments involving the SHH locus in fetuses presenting complete agenesis of both lungs and near-complete agenesis of the trachea, diagnosed by ultraso

SUBMITTER: Melo US 

PROVIDER: S-EPMC8460539 | biostudies-literature | 2021 Oct

REPOSITORIES: biostudies-literature