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Article

Patient-derived AMOTL1 mutations lead to defective cell migration and tissue development.

Bioscience reports - 20 May 2026

Luo Jiaqian, Jin Ruxin, Geng Fang, Wang Yunying, Zhu Yuwen, Gao Wenqiang, Gao Wei, Li Jian, Jiu Yaming, Zhang Ruilin, Yu Fa-Xing, Wang Yu

Abstract excerpt

Angiomotin-like 1 (AMOTL1), by regulating cell-cell junctions, cell polarity, and cell migration, plays a critical role in organogenesis and development. Recently, multiple studies have identified two hotspot mutations in AMOTL1, Arg157 (R157) and Pro160 (P160), in more than ten distinct families presenting with a spectrum of congenital defects, including facial dysmorphisms and cardiac abnormalities. However,...

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Identifiers

PMID: 42012498
DOI: 10.1042/BSR20250149
PMCID: PMC13161331

Genes

AMOTL1

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