ArticleAmerican journal of human genetics2019
Paralog Studies Augment Gene Discovery: DDX and DHX Genes.
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Article in American journal of human genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 64 papers.
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64 citing papers in PubMed, 111 citations in OpenAlex.
- Deciphering the genetic basis of developmental language disorder in children without intellectual disability, autism or apraxia of speech.Molecular autism · 2025Trial
- Syndromic diabetes and hypergonadotropic hypogonadism in a boy with a 12q24.31-32 chromosomal deletion involvingClinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2026Article
- Antiviral innate immunity and adaptive immune responses against monkeypox and viral immune evasion.World journal of virology · 2026Review
- DHX37 protein and mRNA expression patterns in breast and ovarian cancer and their prognostic implications.Histochemistry and cell biology · 2026Article
- Comprehensively identifying and validating the implications of NR5A1 and DHX37 variants for 46,XY disorders of sex development diagnosis.BMC medical genomics · 2026Article
- Identification of DHX58 as a potential therapeutic target for ovarian cancer through multi-omics Mendelian randomization and transcriptomic data analysis.Journal of ovarian research · 2026Article
- Article
- Whole transcriptome analysis of peripheral blood identifies systemic innate immune responses and translation inhibition in subclinical Holstein cattle naturally infected withFrontiers in immunology · 2026Article
- Assessment of paralogue annotation for improving diagnostic accuracy inFrontiers in genetics · 2026Article
- At the crossroads of immunity and hijacking: dual roles of DDX proteins during host-virus interactions.Frontiers in cellular and infection microbiology · 2026Review
- GREGoR: accelerating genomics for rare diseases.Nature · 2025Article
- De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndrome.Brain : a journal of neurology · 2025Article
- C-terminal frameshift variants in GPKOW are associated with a multisystemic X-linked disorder.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- Role of DEAD/DEAH-box helicases in immunity, infection and cancers.Cell communication and signaling : CCS · 2025Review
- DEAD/DEAH-box RNA helicases shape the risk of neurodevelopmental disorders.Trends in genetics : TIG · 2025Review
- Monoallelic de novo variants in DDX17 cause a neurodevelopmental disorder.Brain : a journal of neurology · 2025Article
- Rare Case with Pathogenic Variant in DHX16 Gene Causing Neuromuscular Disease and Oculomotor Anomalies.International journal of molecular sciences · 2025Article
- Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus.American journal of human genetics · 2025Article
- Retinitis pigmentosa and sensorineural deafness associated with aFrontiers in genetics · 2025Article
- Profile ofFrontiers in endocrinology · 2025Review
4 more citing papers are in PubMed but not listed here.
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Authors and funding
52 authors at 20 institutions in 7 countries.
Ingrid PaineDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Jennifer E PoseyDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Christopher M GrochowskiDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Shalini N JhangianiHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
Sarah RosenheckStanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, NY 11724, USA.
Robert KleynerStanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, NY 11724, USA.
Taylor MarmoraleStanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, NY 11724, USA.
Margaret YoonStanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, NY 11724, USA.
Kai WangRaymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Reid RobisonUtah Foundation for Biomedical Research, Salt Lake City, UT 84107, USA.
Gerarda CappuccioDepartment of Translational Medicine, University of Naples "Federico II," 80131 Napoli, Italy; Telethon Institute of Genetics and Medicine, 80078 Pozzuoli, Italy.
Michele PinelliDepartment of Translational Medicine, University of Naples "Federico II," 80131 Napoli, Italy; Telethon Institute of Genetics and Medicine, 80078 Pozzuoli, Italy.
Adriano MagliDepartment of Pediatric Ophthalmology, University of Salerno, 84081 Baronissi SA, Italy.
Zeynep Coban AkdemirDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Joannie HuiDepartment of Pediatrics, Prince of Wales Hospital, the Chinese University of Hong Kong, Hong Kong SAR, China.
Wai Lan YeungDepartment of Pediatrics and Adolescent Medicine, Alice Ho Miu Ling Nethersole Hospital, Hong Kong SAR, China.
Bibiana K Y WongDepartment of Obstetrics and Gynecology, Baylor College of Medicine, Houston, TX 77030, USA; The Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.
Lucia OrtegaMedical Genetics Department, Cook Children's Hospital, Fort Worth, TX 76104, USA.
Mir Reza BekheirniaDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Section of Pediatric Renal, Baylor College of Medicine, Houston, TX 77030, USA; Department of Genetics, Texas Children's Hospital, Houston, TX 76104, USA.
Tatjana BierhalsInstitute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
Maja HempelInstitute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
Jessika JohannsenDepartment of Pediatrics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
René SanterDepartment of Pediatrics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
Dilek AktasDAMAGEN Genetic Diagnostic Center, 06690 Ankara, Turkey.
Mehmet AlikasifogluDAMAGEN Genetic Diagnostic Center, 06690 Ankara, Turkey.
Sevcan BozdoganDepartment of Medical Genetics, Cukurova University Faculty of Medicine, 01330 Adana, Turkey.
Hatip AydinDepartment of Medical Genetics, Medical Faculty of Namik Kemal University, Tekirdag 59100, Turkey.
Ender KaracaDepartment of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA.
Yavuz BayramDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York City, NY 10029, USA.
Hadas ItyelDivision of Nephrology, Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA.
Michael DorschnerCenter for Precision Diagnostics, University of Washington, Seattle, WA 98195, USA.
Janson J WhiteDepartment of Pediatrics, University of Washington, Seattle, WA 98195, USA.
Ekkehard WilichowskiDepartment of Pediatrics and Pediatric Neurology, Georg-August-Universität Göttingen, 37075 Göttingen, Germany.
Saskia B WortmannInstitute of Human Genetics, Technical University München, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum Munchen, 85764 Neuherberg, Germany; University Children's Hospital, Paracelsus Medical University, 5020 Salsburg, Austria.
Erasmo B CasellaChildren's Institute, Hospital das Clinicas, University of Sao Paulo, 05405-000 Sao Paulo, Brazil.
Joao Paulo KitajimaMendelics Genomic Analysis, 04013-000 Sao Paulo, Brazil.
Fernando KokMendelics Genomic Analysis, 04013-000 Sao Paulo, Brazil; Department of Neurology, University of Sao Paulo School of Medicine, 01246-903 Sao Paulo, Brazil.
Fabiola MonteiroMendelics Genomic Analysis, 04013-000 Sao Paulo, Brazil.
Donna M MuznyDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
Michael BamshadDepartment of Pediatrics, University of Washington, Seattle, WA 98195, USA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA; Division of Genetic Medicine, University of Washington, Seattle, WA 98195, USA.
Richard A GibbsDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
V Reid SuttonDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
University of Washington Center for Mendelian Genomics, Baylor-Hopkins Center for Mendelian Genomics, Telethon Undiagnosed Diseases Program
Hilde Van EschCenter for Human Genetics, University Hospitals Leuven, 3000 Leuven, Belgium.
Nicola Brunetti-PierriDepartment of Translational Medicine, University of Naples "Federico II," 80131 Napoli, Italy; Telethon Institute of Genetics and Medicine, 80078 Pozzuoli, Italy.
Friedhelm HildebrandtDivision of Nephrology, Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA.
Ariel BrautbarMedical Genetics Department, Cook Children's Hospital, Fort Worth, TX 76104, USA.
Ignatia B Van den VeyverDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, TX 77030, USA; The Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.
Ian GlassDivision of Genetic Medicine, University of Washington, Seattle, WA 98195, USA.
Davor LesselInstitute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
Gholson J LyonStanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, NY 11724, USA; Utah Foundation for Biomedical Research, Salt Lake City, UT 84107, USA; Institute for Basic Research in Developmental Disabilities, Staten Island, NY 10314, USA.
James R LupskiDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA. Electronic address: jlupski@bcm.edu.
Baylor College of Medicine · USCold Spring Harbor Laboratory · USUniversity of Washington · USUniversity Medical Center Hamburg-Eppendorf · DEUniversity of Naples Federico II · ITCook Children's Medical Center · USFoundation for Biomedical Research · USHarvard University · USIntergen (Turkey) · TRUniversidade de São Paulo · BRUniversität Hamburg · DEAlice Ho Miu Ling Nethersole Hospital · CNBaylor Genetics · USChildren's Hospital of Philadelphia · USCukurova University · TRGenomic (Brazil) · BRIcahn School of Medicine at Mount Sinai · USMendelics · BRNamık Kemal University · TRNeurological Research Institute · US
Funding
The Human Genome Sequencing CenterU54HG003273 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI GIBBS, RICHARD A · 2004 to 2015
$341.3MUW Center for Mendelian GenomicsUM1HG006493 · NHGRI · UNIVERSITY OF WASHINGTON · PI BAMSHAD, MICHAEL JOSEPH, LEAL, SUZANNE M · 2016 to 2020
$15.3MBaylor-Johns Hopkins Center for Mendelian GeneticsUM1HG006542 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI VALLE, DAVID · 2016 to 2020
$14.5MPROGRAM IN HUMAN MOLECULAR GENETICST32GM008307 · NIGMS · BAYLOR COLLEGE OF MEDICINE · PI SHAULSKY, GAD · 1990 to 2020
$6.6MSTRUCTURAL VARIATION IN NEUROLOGICAL DISEASER35NS105078 · NINDS · BAYLOR COLLEGE OF MEDICINE · PI LUPSKI, JAMES R. · 2018 to 2025
$6.0MMultidisciplinary K12 Urologic Research (KURe) Career Development ProgramK12DK083014 · NIDDK · BAYLOR COLLEGE OF MEDICINE · PI LAMB, DOLORES JEAN · 2008 to 2017
$6.0MNonrecurrent rearrangements, genome architecture and neurodegenerative disease.R01NS058529 · NINDS · BAYLOR COLLEGE OF MEDICINE · PI LUPSKI, JAMES R. · 2009 to 2017
$5.0MImproving the Diagnosis of Congenital Genitourinary Defects.R01DK078121 · NIDDK · WEILL MEDICAL COLL OF CORNELL UNIV · PI LAMB, DOLORES JEAN · 2007 to 2021
$4.8MMutidisciplinary Training;Brain Disorders &DevelopmentT32NS043124 · NINDS · BAYLOR COLLEGE OF MEDICINE · PI SWANN, JOHN WILLIAM · 2002 to 2021
$4.6MNew genes and pathomechanisms of congenital abnormalities of the kidney (CAKUT)R01DK088767 · NIDDK · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI HILDEBRANDT, FRIEDHELM · 2010 to 2019
$3.4MIndividual genomic analyses to discover the molecular basis and mechanisms contributing to adult-onset diseaseK08HG008986 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI POSEY, JENNIFER ELLEN · 2017 to 2021
$831kNHGRI NIH HHS K08 HG008986NHGRI NIH HHS U54 HG003273NHGRI NIH HHS UM1 HG006493NHGRI NIH HHS UM1 HG006542NIDDK NIH HHS K12 DK083014NIDDK NIH HHS R01 DK078121NIDDK NIH HHS R01 DK088767NIGMS NIH HHS T32 GM008307NINDS NIH HHS R01 NS058529NINDS NIH HHS R35 NS105078NINDS NIH HHS T32 NS043124
Abstract
Members of a paralogous gene family in which variation in one gene is known to cause disease are eight times more likely to also be associated with human disease. Recent studies have elucidated DHX30 and DDX3X as genes for which pathogenic variant alleles are involved in neurodevelopmental disorders. We hypothesized that variants in paralogous genes encoding members of the DExD/H-box RNA helicase superfamily might also underlie developmental delay and/or intellectual disability (DD and/or ID) disease phenotypes. Here we describe 15 unrelated individuals who have DD and/or ID, central nervous system (CNS) dysfunction, vertebral anomalies, and dysmorphic features and were found to have probably damaging variants in DExD/H-box RNA helicase genes. In addition, these individuals exhibit a variety of other tissue and organ system involvement including ocular, outer ear, hearing, cardiac, and kidney tissues. Five individuals with homozygous (one), compound-heterozygous (two), or de novo (two) missense variants in DHX37 were identified by exome sequencing. We identified ten total individuals with missense variants in three other DDX/DHX paralogs: DHX16 (four individuals), DDX54 (three individuals), and DHX34 (three individuals). Most identified variants are rare, predicted to be damaging, and occur at conserved amino acid residues. Taken together, these 15 individuals implicate the DExD/H-box helicases in both dominantly and recessively inherited neurodevelopmental phenotypes and highlight the potential for more than one disease mechanism underlying these disorders.
Indexed as
Mutation, MissenseDEAD-box RNA HelicasesExome SequencingFemaleGenetic Association StudiesHumansInfantInfant, NewbornMaleNeoplasm ProteinsNeurodevelopmental DisordersPedigreeRNA HelicasesDDX54 protein, humanDEAD-box RNA HelicasesDHX16 protein, humanDHX34 protein, humanNeoplasm ProteinsRNA Helicasesdevelopmental delayDExD/H-box RNA helicase familyhuman paralogsintellectual disability
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