Article
A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature.
American journal of medical genetics. Part A - 1 May 2023
Strong Alanna, Rao Soumya, von Hardenberg Sandra, Li Dong, Cox Liza L, Lee Paul C, Zhang Li Q, Awotoye Waheed, Diamond Tamir, Gold Jessica, Gooch Catherine, Gowans Lord Jephthah Joojo, Hakonarson Hakon, Hing Anne, Loomes Kathleen, Martin Nicole, Marazita Mary L, Mononen Tarja, Piccoli David, Pfundt Rolph, Raskin Salmo, Scherer Stephen W, Sobriera Nara, Vaccaro Courtney, Wang Xiang, Watson Deborah, Weksberg Rosanna, Bhoj Elizabeth, Murray Jeffrey C, Lidral Andrew C, Butali Azeez, Buckley Michael F, Roscioli Tony, Koolen David A, Seaver Laurie H, Prows Cynthia A, Stottmann Rolf W, Cox Timothy C
Abstract excerpt
AMOTL1 encodes angiomotin-like protein 1, an actin-binding protein that regulates cell polarity, adhesion, and migration. The role of AMOTL1 in human disease is equivocal. We report a large cohort of individuals harboring heterozygous AMOTL1 variants and define a core phenotype of orofacial clefting, congenital heart disease, tall stature, auricular anomalies, and gastrointestinal manifestations in individuals...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.