The complex search for the cause of gastroschisis

Abstract

Background To reveal the complex etiology of gastroschisis through two independent cases. Cases Case 1 involves gastroschisis recurrence in a consanguineous marriage, and Case 2 concerns a fetus with gastroschisis whose mother had undergone gastroplasty. Methylation array was carried out in both cases (two fetuses with gastroschisis, their two mothers, one father from the consanguineous marriage), and in 16 controls (fetuses and their respective mothers). Conclusion The two cases presented different noninherited methylation profiles.

Moebius syndrome and gastroschisis—The second case of a rare association

“…In a Mexican family with recurrence of gastroschisis whole exome analysis supported a “multifactorial model” with a set of 10 high‐impact potential deleterious variants in genes involved in gastroschisis‐associated biological processes (Salinas‐Torres et al, 2020). In a study of two fetuses with gastroschisis an abnormal methylation pattern of specific regions in the genome were detected in comparison to a control group (de Freitas et al, 2022).…”