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Войти в исследования Pediatric surgery international · 2026
Rare variants in TTC7A, ROCK2 and LIMK2 suggest a role for the ROCK-signaling pathway in isolated intestinal malrotation.
СтатьяНазвание и аннотация: Перевод в очереди
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Salehi Karlslätt Karin, Pettersson Maria, Lagerstedt-Robinson Kristina, Ullberg Ulla, Lindstrand Anna, Nordenskjöld Agneta
Аннотация
PURPOSE: This study aimed to identify genetic variants contributing to the development of early-diagnosed isolated intestinal malrotation.
METHODS: We conducted Genome sequencing on ten young children diagnosed with midgut volvulus due to intestinal malrotation who presented no other malformations or comorbidities. Our analysis focused on a panel of 442 genes previously associated with intestinal development, malrotation, ciliopathies and/or situs abnormalities.
RESULTS: In one male patent we discovered two heterozygous variants in TTC7A, c.433G > A p.(Ala145Thr) and c.1057G > A p.(Glu353Lys). Carrier testing revealed that he inherited both variants from his mother with a mild intestinal rotation abnormality. Additionally, we identified inherited variants in two other male participants, c.1802 A > T p.(Asp601Val) in ROCK2 and, c.884 G > A p.(Arg295His) in LIMK2. These genes are part of a shared signaling pathway previously shown to cause intestinal malrotation in Xenopus when inhibited.
CONCLUSION: Our findings suggest the potential involvement of TTC7A, ROCK2 and LIMK2-genes in the pathogenesis of intestinal malrotation; through the ROCK-signaling pathway.
METHODS: We conducted Genome sequencing on ten young children diagnosed with midgut volvulus due to intestinal malrotation who presented no other malformations or comorbidities. Our analysis focused on a panel of 442 genes previously associated with intestinal development, malrotation, ciliopathies and/or situs abnormalities.
RESULTS: In one male patent we discovered two heterozygous variants in TTC7A, c.433G > A p.(Ala145Thr) and c.1057G > A p.(Glu353Lys). Carrier testing revealed that he inherited both variants from his mother with a mild intestinal rotation abnormality. Additionally, we identified inherited variants in two other male participants, c.1802 A > T p.(Asp601Val) in ROCK2 and, c.884 G > A p.(Arg295His) in LIMK2. These genes are part of a shared signaling pathway previously shown to cause intestinal malrotation in Xenopus when inhibited.
CONCLUSION: Our findings suggest the potential involvement of TTC7A, ROCK2 and LIMK2-genes in the pathogenesis of intestinal malrotation; through the ROCK-signaling pathway.