A Human Pleiotropic Multiorgan Condition Caused by Deficient Wnt Secretion.

ABSTRACT:

Background

Structural birth defects occur in approximately 3% of live births; most such defects lack defined genetic or environmental causes. Despite advances in surgical approaches, pharmacologic prevention remains largely out of reach.

Methods

We queried worldwide databases of 20,248 families that included children with neurodevelopmental disorders and that were enriched for parental consanguinity. Approximately one third of affected children in these families presented with structural birth defects or microcephaly. We performed exome or genome sequencing of samples obtained from the children, their parents, or both to identify genes with biallelic pathogenic or likely pathogenic mutations present in more than one family. After identifying disease-causing variants, we gene

SUBMITTER: Chai G 

PROVIDER: S-EPMC9017221 | biostudies-literature | 2021 Sep

REPOSITORIES: biostudies-literature