Peer-Reviewed Publication
Nat Med2026;32(4):1519-1529.April 1, 2026Journal Article
Deleterious coding variation associated with autism is shared across ancestries.
Marina Natividad Avila1,2,3,4,5,6, Seulgi Jung1,2,3,4,5,6, F Kyle Satterstrom7,8,9, Jack M Fu7,10,11, Tess Levy1,2,4,6, Laura G Sloofman1,2,3,4,5,6, Lambertus Klei12, Thariana Pichardo1,2,4,6, Dalia Marquez1,2, Christine R Stevens7,8,9, Caroline M Cusick8, Jennifer L Ames13, Gabriele S Campos14, Hilda Cerros13, Roberto Chaskel15,16, Claudia I S Costa14, Michael L Cuccaro17,18, Andrea Del Pilar Lopez15, Magdalena Fernandez16, Eugenio Ferro16, Liliana Galeano19, Ana Cristina D E S Girardi14, Anthony J Griswold17,18, Luis C Hernandez19, Naila Lourenço14, Yunin Ludena20, Diana Núñez-Ríos21,22, Rosa Oyama23, Katherine P Peña19, Isaac Pessah20, Rebecca Schmidt20, Holly M Sweeney24, Lizbeth Tolentino23, Jaqueline Y T Wang14, Lilia Albores-Gallo25,26, Lisa A Croen13,27, Carlos S Cruz-Fuentes28, Irva Hertz-Picciotto20, Alexander Kolevzon1,2,29, Maria Claudia Lattig19, Liliana Mayo23, Maria Rita Passos-Bueno14, Margaret A Pericak-Vance17,18, Paige M Siper1,2,6, Flora Tassone20,30, M Pilar Trelles31, , , Michael E Talkowski7,8,10,11,32, Mark J Daly7,8,9,10,33,34, Behrang Mahjani1,2,3,6,35,36, Silvia De Rubeis1,2,4,6,37, Edwin H Cook38, Kathryn Roeder39,40, Catalina Betancur41, Bernie Devlin12, Joseph D Buxbaum42,43,44,45,46,47
1Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
2Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
3Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
4Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
5Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
6The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
7Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
8Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
9Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.
10Center for Genomic Medicine, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.
11Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
12Department of Psychiatry, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
13Division of Research, Kaiser Permanente Northern, Pleasanton, CA, USA.
14Centro de Estudos do Genoma Humano e Células-Tronco, Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brasil.
15Facultad de Medicina, Universidad de los Andes, Bogotá, Colombia.
16Instituto Colombiano del Sistema Nervioso, Clínica Montserrat, Bogotá, Colombia.
17John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.
18The Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA.
19Facultad de Ciencias, Universidad de los Andes, Bogotá, Colombia.
20MIND (Medical Investigation of Neurodevelopmental Disorders) Institute, University of California, Davis, Davis, CA, USA.
21Department of Psychiatry, Yale University School of Medicine, New Haven, CT, USA.
22National Center of Posttraumatic Stress Disorders, VA CT Healthcare Center, West Haven, CT, USA.
23Centro Ann Sullivan del Peru, Lima, Peru.
24Center Ann Sullivan International, Lawrence, KS, USA.
25Hospital Psiquiátrico Infantil Dr. Juan N. Navarro, Mexico City, Mexico.
26Universidad Nacional Autónoma de México, Mexico City, Mexico.
27Kaiser Permanente School of Medicine, Pasadena, CA, USA.
28Departamento de Genética, Subdirección de Investigaciones Clínicas, Instituto Nacional de Psiquiatría Ramón de la Fuente Muñiz México, Ciudad de México, Mexico.
29Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
30Department of Biochemistry and Molecular Medicine, University of California, Davis, School of Medicine, Davis, CA, USA.
31Psychiatry and Behavioral Sciences, Boston Children's Hospital, Boston, MA, USA.
32Program in Bioinformatics and Integrative Genomics, Harvard Medical School, Boston, MA, USA.
33Department of Medicine, Harvard Medical School, Boston, MA, USA.
34Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland.
35Department of Artificial Intelligence and Human Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
36Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
37The Alper Center for Neural Development and Regeneration, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
38Department of Psychiatry, University of Illinois Chicago, Chicago, IL, USA.
39Department of Statistics, Carnegie Mellon University, Pittsburgh, PA, USA.
40Computational Biology Department, Carnegie Mellon University, Pittsburgh, PA, USA.
41Sorbonne Université, INSERM, CNRS, Institut de Biologie Paris Seine, Center for Neuroscience at Sorbonne Université, Paris, France.
42Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY, USA. joseph.buxbaum@mssm.edu.
43Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA. joseph.buxbaum@mssm.edu.
44Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA. joseph.buxbaum@mssm.edu.
45Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA. joseph.buxbaum@mssm.edu.
46Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY, USA. joseph.buxbaum@mssm.edu.
47The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA. joseph.buxbaum@mssm.edu.
Abstract
The past decade has seen remarkable progress in identifying genes that, when impacted by deleterious coding variation, confer high likelihood for autism spectrum disorder (ASD), intellectual disability and other associated developmental disorders. However, most underlying gene discovery efforts have focused on individuals of European ancestry, limiting insights into genetic liability across divers…
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