A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature.
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Publication year
2023Author(s)
Source
American Journal of Medical Genetics. Part A, 191, 5, (2023), pp. 1227-1239ISSN
Publication type
Article / Letter to editor
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Organization
Human Genetics
Journal title
American Journal of Medical Genetics. Part A
Volume
vol. 191
Issue
iss. 5
Page start
p. 1227
Page end
p. 1239
Subject
Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience; Radboud University Medical CenterAbstract
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.
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- Faculty of Medical Sciences [93208]
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