Identifying environmental risk factors and gene-environment interactions in holoprosencephaly.

ABSTRACT:

Background

Holoprosencephaly is the most common malformation of the forebrain (1 in 250 embryos) with severe consequences for fetal and child development. This study evaluates nongenetic factors associated with holoprosencephaly risk, severity, and gene-environment interactions.

Methods

For this retrospective case control study, we developed an online questionnaire focusing on exposures to common and rare toxins/toxicants before and during pregnancy, nutritional factors, maternal health history, and demographic factors. Patients with holoprosencephaly were primarily ascertained from our ongoing genetic and clinical studies of holoprosencephaly. Controls included children with Williams-Beuren syndrome (WBS) ascertained through online advertisements in a WBD support group and

SUBMITTER: Addissie YA 

PROVIDER: S-EPMC9288838 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature