ArticlemedRxiv : the preprint server for health sciences2025
Deleterious coding variation associated with autism is consistent across populations, as exemplified by admixed Latin American populations.
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Authors and funding
55 authors.
Marina Natividad AvilaSeaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Seulgi JungSeaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
F Kyle SatterstromProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
Jack M FuProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
Tess LevySeaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Laura G SloofmanSeaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Lambertus KleiDepartment of Psychiatry, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA.
Thariana PichardoSeaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Christine R StevensProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
Caroline M CusickStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
Jennifer L AmesDivision of Research, Kaiser Permanente Northern, Pleasanton, California, USA.
Gabriele S CamposCentro de Estudos do Genoma Humano e Celulas-Tronco, Departamento de Genetica e Biologia Evolutiva, Biociência, Universidade de São Paulo, São Paulo, Brasil.
Hilda CerrosDivision of Research, Kaiser Permanente Northern, Pleasanton, California, USA.
Roberto ChaskelFacultad de Medicina, Universidad de los Andes, Bogota, Colombia.
Claudia I S CostaCentro de Estudos do Genoma Humano e Celulas-Tronco, Departamento de Genetica e Biologia Evolutiva, Biociência, Universidade de São Paulo, São Paulo, Brasil.
Michael L CuccaroJohn P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, USA.
Andrea Del Pilar LopezFacultad de Medicina, Universidad de los Andes, Bogota, Colombia.
Magdalena FernandezInstituto Colombiano del Sistema Nervioso, Clinica Montserrat, Bogota, Colombia.
Eugenio FerroInstituto Colombiano del Sistema Nervioso, Clinica Montserrat, Bogota, Colombia.
Liliana GaleanoFacultad de Ciencias, Universidad de los Andes, Bogotá, Colombia.
Ana Cristina D E S GirardiCentro de Estudos do Genoma Humano e Celulas-Tronco, Departamento de Genetica e Biologia Evolutiva, Biociência, Universidade de São Paulo, São Paulo, Brasil.
Anthony J GriswoldJohn P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, USA.
Luis C HernandezFacultad de Ciencias, Universidad de los Andes, Bogotá, Colombia.
Naila LourençoCentro de Estudos do Genoma Humano e Celulas-Tronco, Departamento de Genetica e Biologia Evolutiva, Biociência, Universidade de São Paulo, São Paulo, Brasil.
Yunin LudenaMIND (Medical Investigation of Neurodevelopmental Disorders) Institute, University of California Davis, Davis, California, USA.
Diana L NuñezDepartment of Psychiatry, Yale University School of Medicine, New Haven, Connecticut, USA.
Rosa OyamaCentro Ann Sullivan del Peru, Lima, Peru.
Katherine P PeñaFacultad de Ciencias, Universidad de los Andes, Bogotá, Colombia.
Isaac PessahMIND (Medical Investigation of Neurodevelopmental Disorders) Institute, University of California Davis, Davis, California, USA.
Rebecca SchmidtMIND (Medical Investigation of Neurodevelopmental Disorders) Institute, University of California Davis, Davis, California, USA.
Holly M SweeneyCenter Ann Sullivan International, Lawrence, Kansas, USA.
Lizbeth TolentinoCentro Ann Sullivan del Peru, Lima, Peru.
Jaqueline Y T WangCentro de Estudos do Genoma Humano e Celulas-Tronco, Departamento de Genetica e Biologia Evolutiva, Biociência, Universidade de São Paulo, São Paulo, Brasil.
Lilia Albores-GalloHospital Psiquiátrico Infantil Dr. Juan N. Navarro, Ciudad de México, Mexico.
Lisa A CroenDivision of Research, Kaiser Permanente Northern, Pleasanton, California, USA.
Carlos S Cruz-FuentesDepartamento de Genética, Subdirección de Investigaciones Clínicas, Instituto Nacional de Psiquiatría Ramón de la Fuente Muñiz México, Ciudad de México, Mexico.
Irva Hertz-PicciottoMIND (Medical Investigation of Neurodevelopmental Disorders) Institute, University of California Davis, Davis, California, USA.
Alexander KolevzonSeaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Maria C LattigFacultad de Ciencias, Universidad de los Andes, Bogotá, Colombia.
Liliana MayoCentro Ann Sullivan del Peru, Lima, Peru.
Maria Rita Passos-BuenoCentro de Estudos do Genoma Humano e Celulas-Tronco, Departamento de Genetica e Biologia Evolutiva, Biociência, Universidade de São Paulo, São Paulo, Brasil.
Margaret A Pericak-VanceJohn P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, USA.
Paige M SiperSeaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Flora TassoneMIND (Medical Investigation of Neurodevelopmental Disorders) Institute, University of California Davis, Davis, California, USA.
M Pilar TrellesPsychiatry and Behavioral Sciences, Boston Children's Hospital, Boston, Massachusetts, USA.
Autism Sequencing Consortium
Michael E TalkowskiProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
Mark J DalyProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
Behrang MahjaniSeaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Silvia De RubeisSeaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Edwin H CookDepartment of Psychiatry, University of Illinois Chicago, Chicago, Illinois, USA.
Kathryn RoederDepartment of Statistics, Carnegie Mellon University, Pittsburgh, Pennsylvania, USA.
Catalina BetancurSorbonne Université, INSERM, CNRS, Neuroscience Paris Seine, Institut de Biologie Paris Seine, Paris, France.
Bernie DevlinDepartment of Psychiatry, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA.
Joseph D BuxbaumSeaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Funding
Conduits: Mount Sinai Health System Translational Science HubUL1TR004419 · NCATS · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI Rosalind J Wright · 2022 to 2026
$46.4MScalable tool and comprehensive maps to interpret structural variation across the neuropsychiatric spectrumR01MH115957 · NIMH · BROAD INSTITUTE, INC. · PI TALKOWSKI, MICHAEL E · 2019 to 2025
$5.4MGenomics of Autism in Latinx AncestriesR01MH128813 · NIMH · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI Joseph D. Buxbaum · 2022 to 2026
$3.7M1/4 - The Autism Sequencing Consortium: Autism Gene Discovery in >50,000 ExomesU01MH111661 · NIMH · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI BUXBAUM, JOSEPH D. · 2017 to 2021
$2.6M1/4 - The Autism Sequencing Consortium: Discovering autism risk genes and how they impact core features of the disorderR01MH129724 · NIMH · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI Joseph D. Buxbaum · 2022 to 2026
$2.0MCOVID and Translational Science supercomputer (CATS)S10OD030463 · OD · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI KOVATCH, PATRICIA · 2021 to 2021
$2.0MBig Omics Data Engine 2 SupercomputerS10OD026880 · OD · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI KOVATCH, PATRICIA · 2019 to 2019
$2.0M2/4 The Autism Sequencing Consortium: Discovering autism risk genes and how they impact core features of the disorderR01MH129722 · NIMH · BROAD INSTITUTE, INC. · PI Mark Joseph Daly · 2022 to 2026
$2.0MScalable tool and comprehensive maps to interpret structural variation across the neuropsychiatric spectrumRF1MH115957 · NIMH · BROAD INSTITUTE, INC. · PI MICHAEL E TALKOWSKI · 2026 to 2026
$1.5MScalable tools and comprehensive maps to interpret structural variation across the neuropsychiatric spectrumR56MH115957 · NIMH · BROAD INSTITUTE, INC. · PI TALKOWSKI, MICHAEL E · 2018 to 2018
$870kNCATS NIH HHS UL1 TR004419NIH HHS S10 OD026880NIH HHS S10 OD030463NIMH NIH HHS R01 MH115957NIMH NIH HHS R01 MH128813NIMH NIH HHS R01 MH129722NIMH NIH HHS R01 MH129724NIMH NIH HHS R56 MH115957NIMH NIH HHS RF1 MH115957NIMH NIH HHS U01 MH111661Wellcome Trust
Abstract
The past decade has seen remarkable progress in identifying genes that, when impacted by deleterious coding variation, confer high risk for autism spectrum disorder (ASD), intellectual disability, and other developmental disorders. However, most underlying gene discovery efforts have focused on individuals of European ancestry, limiting insights into genetic risks across diverse populations. To help address this, the Genomics of Autism in Latin American Ancestries Consortium (GALA) was formed, presenting here the largest sequencing study of ASD in Latin American individuals (n>15,000). We identified 35 genome-wide significant (FDR < 0.05) ASD risk genes, with substantial overlap with findings from European cohorts, and highly constrained genes showing consistent signal across populations. The results provide support for emerging (e.g.,
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.