{"doi":"10.1002/ajmg.a.63130","title":"A mutational hotspot in <scp><i>AMOTL1</i></scp> defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature","abstract":"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 with variants in AMOTL1 affecting amino acids 157-161, a functionally undefined but highly conserved region. Three individuals with AMOTL1 variants outside this region are also described who had variable presentations with orofacial clefting and multi-organ disease. Our case cohort suggests that heterozygous missense variants in AMOTL1, most commonly affecting amino acid residues 157-161, define a new orofacial clefting syndrome, and indicates an important functional role for this undefined region.","journal":"American Journal of Medical Genetics Part A","year":2023,"id":381498,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":3,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9566,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2023-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1147492,"name":"Soumya Rao","orcid":"0000-0001-7471-0214","position":1,"is_corresponding":false},{"id":640168,"name":"Sandra von Hardenberg","orcid":"0000-0002-3680-7450","position":2,"is_corresponding":false},{"id":17377,"name":"Dong Li","orcid":"0000-0002-2265-6727","position":3,"is_corresponding":false},{"id":984409,"name":"Liza L. 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