Isolated esophageal atresia in both premature twins

Maroszyńska, Iwona; Fortecka-Piestrzeniewicz, Katarzyna; Niedźwiecka, Marta; Żarkowska-Szaniawska, Alicja

doi:10.1016/j.pepo.2014.10.003

Cited by 3 publications

(1 citation statement)

References 5 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Congenital anomalies are more common among twins, and EA is up to 3.2 times more common among twins than in the general population [ 8 ]. The occurrence of an isolated form of EA in both twins or in siblings are show in case reports [ 9 , 10 ]. Twins during fetal development are exposed to the same environmental conditions—potentially teratogenic substances and infections—so the occurrence of a defect may be related to the individual susceptibility of a given fetus or the genetic factors of a particular person [ 11 ].…”

Section: Introductionmentioning

confidence: 99%

Epigenetic Findings in Twins with Esophageal Atresia

Błoch,

Gasperowicz,

Gerus

et al. 2023

Genes

View full text Add to dashboard Cite

Esophageal atresia (EA) is the most common malformation of the upper gastrointestinal tract. The estimated incidence of EA is 1 in 3500 births. EA is more frequently observed in boys and in twins. The exact cause of isolated EA remains unknown; a multifactorial etiology, including epigenetic gene expression modifications, is considered. The study included six pairs of twins (three pairs of monozygotic twins and three pairs of dizygotic twins) in which one child was born with EA as an isolated defect, while the other twin was healthy. DNA samples were obtained from the blood and esophageal tissue of the child with EA as well as from the blood of the healthy twin. The reduced representation bisulfite sequencing (RRBS) technique was employed for a whole-genome methylation analysis. The analyses focused on comparing the CpG island methylation profiles between patients with EA and their healthy siblings. Hypermethylation in the promoters of 219 genes and hypomethylation in the promoters of 78 genes were observed. A pathway enrichment analysis revealed the statistically significant differences in methylation profile of 10 hypermethylated genes in the Rho GTPase pathway, previously undescribed in the field of EA (ARHGAP36, ARHGAP4, ARHGAP6, ARHGEF6, ARHGEF9, FGD1, GDI1, MCF2, OCRL, and STARD8).

show abstract