ArticleGenetics in medicine : official journal of the American College of Medical Genetics2022
SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile.
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Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 1 of them a synthesis that pooled it.
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23citing papers in PubMed, 1 pooled it
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Who cites it
23 citing papers in PubMed, 1 synthesis or guideline pooled it, 35 citations in OpenAlex.
- A de novo SOX11 mutation causing hypogonadotropic hypogonadism: a case report and literature review.BMC pediatrics · 2026Pooled it
- Genetic landscape of a neonatal hypogonadotropic hypogonadism series: Novel variants and phenotypic spectrum.Journal of neuroendocrinology · 2026Article
- Arrayed single-gene perturbations identify drivers of human anterior neural tube closure.eLife · 2026Article
- [A case of Berry syndrome associated withZhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2026Article
- PRMT5 inhibitors actively promote metastatic progression of lung adenocarcinoma.bioRxiv : the preprint server for biology · 2026Article
- [Hypogonadotropic hypogonadism due to pathogenic variants in the POLR3B gene].Problemy endokrinologii · 2026Article
- Olfactory dysfunction and submicroscopic abnormalities: unveiling hidden pathologies.Frontiers in molecular neuroscience · 2026Review
- Analysis Methods for Diagnosing Rare Neurodevelopmental Diseases with Episignatures: A Systematic Review of the Literature.Biomedicines · 2025Review
- Persistent and Dose-Dependent Neural and Metabolic Gene Expression Changes Induced by Transient Citalopram Exposure in Zebrafish Embryos.International journal of molecular sciences · 2025Article
- Idiopathic Short Stature in the Genomic Era: Integrating Auxology, Endocrinology, and Emerging Genetic Insights.Children (Basel, Switzerland) · 2025Review
- Expanding the Spectrum of Endocrine Abnormalities Associated With SOX11-related Disorders.The Journal of clinical endocrinology and metabolism · 2025Article
- Case Report: Observation of early-onset high myopia with fundus tessellation changes in Coffin-Siris syndrome 9 (CSS9) and literature review.Frontiers in pediatrics · 2025Article
- Novel variants in the SOX11 gene: clinical description of seven new patients.European journal of human genetics : EJHG · 2024Article
- Disorders of puberty and neurodevelopment: A shared etiology?Annals of the New York Academy of Sciences · 2024Review
- Neuropathic pain development following nerve injury is mediated by SOX11-ARID1A-SOCS3 transcriptional regulation in the spinal cord.Molecular biology reports · 2024Article
- Landscape of ConstitutionalGenes · 2024Review
- Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals.Human genetics · 2024Article
- Panel testing for the molecular genetic diagnosis of congenital hypogonadotropic hypogonadism - a clinical perspective.European journal of human genetics : EJHG · 2023Review
- Autism-linked NLGN3 is a key regulator of gonadotropin-releasing hormone deficiency.Disease models & mechanisms · 2023Article
- The value of exomes across the ages.European journal of human genetics : EJHG · 2023Article
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Authors and funding
56 authors at 20 institutions in 11 countries.
Reem Al-JawahiriDepartment of Psychology, The University of Sheffield, Sheffield, United Kingdom.
Aidin ForoutanDepartment of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada; The Archie and Irene Verspeeten Clinical Genome Centre, London Health Sciences Foundation, London Health Sciences Centre, London, Ontario, Canada.
Jennifer KerkhofDepartment of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada; The Archie and Irene Verspeeten Clinical Genome Centre, London Health Sciences Foundation, London Health Sciences Centre, London, Ontario, Canada.
Haley McConkeyDepartment of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada; The Archie and Irene Verspeeten Clinical Genome Centre, London Health Sciences Foundation, London Health Sciences Centre, London, Ontario, Canada.
Michael LevyDepartment of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada; The Archie and Irene Verspeeten Clinical Genome Centre, London Health Sciences Foundation, London Health Sciences Centre, London, Ontario, Canada.
Sadegheh HaghshenasDepartment of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada; The Archie and Irene Verspeeten Clinical Genome Centre, London Health Sciences Foundation, London Health Sciences Centre, London, Ontario, Canada.
Kathleen RooneyDepartment of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada; The Archie and Irene Verspeeten Clinical Genome Centre, London Health Sciences Foundation, London Health Sciences Centre, London, Ontario, Canada.
Jasmin TurnerBiosciences Institute, Newcastle University, Newcastle Upon Tyne, United Kingdom.
Debbie ShearsOxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom.
Muriel HolderDepartment of Clinical Genetics, Guy's and St Thomas' NHS Foundation Trust, London, United Kingdom.
Henrietta LefroyPeninsula Clinical Genetics Service, RD&E Heavitree Hospital, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom.
Bruce CastlePeninsula Clinical Genetics Service, RD&E Heavitree Hospital, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom.
Linda M ReisDepartment of Pediatrics and Children's Research Institute, Medical College of Wisconsin, Children's Wisconsin, Milwaukee, WI.
Elena V SeminaDepartment of Pediatrics and Children's Research Institute, Medical College of Wisconsin, Children's Wisconsin, Milwaukee, WI.
University of Washington Centre for Mendelian Genomics (UW-CMG)
Katherine LachlanWessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton, United Kingdom.
Kate ChandlerManchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, United Kingdom.
Thomas WrightManchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, United Kingdom.
Jill Clayton-SmithManchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, United Kingdom.
Franziska Phan HugService of Endocrinology, Diabetology, and Metabolism, Lausanne University Hospital, Lausanne, Switzerland.
Nelly PitteloudService of Endocrinology, Diabetology, and Metabolism, Lausanne University Hospital, Lausanne, Switzerland.
Lucia BartoloniService of Endocrinology, Diabetology, and Metabolism, Lausanne University Hospital, Lausanne, Switzerland.
Sabine HoffjanRuhr-Universitat Bochum, Abteilung für Humangenetik, Bochum, Germany.
Soo-Mi ParkClinical Genetics, Addenbrooke's Treatment Centre, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom.
Ajay ThankamonyClinical Genetics, Addenbrooke's Treatment Centre, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom.
Melissa LeesClinical Genetics, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.
Emma WakelingClinical Genetics, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.
Swati NaikWest Midlands Regional Clinical Genetics Centre and Department of Clinical Genetics, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom.
Britta HankerAmbulanzzentrum UKSH, Institut für Humangenetik, Universitätsklinikum Schleswig-Holstein, Lübeck, Germany.
Katta M GirishaDepartment of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India.
Emanuele AgoliniMedical Genetics Laboratory, Bambino Gesu Children's Hospital, Rome, Italy.
Zampino GiuseppePaediatric Department, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Ziegler AlbanAngers University Hospital Center, Angers, France.
Marine TessarechAngers University Hospital Center, Angers, France.
Boris KerenInstitute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.
Alexandra AfenjarInstitute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.
Christiane ZweierDepartment of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.
Andre ReisDepartment of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.
Thomas SmolEA7364 RADEME, Institute of Medical Genetics, Lille University Hospital, Lille University, Lille, France.
Yoshinori TsurusakiFaculty of Nutritional Science, Sagami Women's University, Sagamihara, Japan.
Okamoto NobuhikoDepartment of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, Japan.
Futoshi SekiguchiDepartment of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
Naomi TsuchidaDepartment of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
Naomichi MatsumotoDepartment of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
Ikuyo KouLaboratory for Bone and Joint Diseases, Center for Integrative Medical Sciences, RIKEN, Tokyo, Japan.
Yoshiro YonezawaLaboratory for Bone and Joint Diseases, Center for Integrative Medical Sciences, RIKEN, Tokyo, Japan; Department of Orthopedic Surgery, Keio University School of Medicine, Keio University, Tokyo, Japan.
Shiro IkegawaLaboratory for Bone and Joint Diseases, Center for Integrative Medical Sciences, RIKEN, Tokyo, Japan.
Bert CallewaertCenter for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium; Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium.
Megan FreethDepartment of Psychology, The University of Sheffield, Sheffield, United Kingdom.
Genomics England Research Consortium
Lotte KleinendorstCentrum voor Medische Genetica - UZ Gent, Ghent University Hospital, Gent, Belgium.
Alan DonaldsonDepartment of Clinical Genetics Service, University Hospitals Bristol NHS Foundation Trust, Bristol, United Kingdom.
Marielle AldersDepartment of Human Genetics, Amsterdam Reproduction & Development Research Institute, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
Anne De PaepeCenter for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.
Bekim SadikovicDepartment of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada. Electronic address: Bekim.Sadikovic@lhsc.on.ca.
Alisdair McNeillDepartment of Neuroscience, The Medical School, The University of Sheffield, Sheffield, United Kingdom; Department of Clinical Genetics, Sheffield Children's Hospital NHS Foundation Trust, Sheffield, United Kingdom. Electronic address: a.mcneill@sheffield.ac.uk.
Western University · CAManchester University NHS Foundation Trust · GBUniversity of Bern · CHAmsterdam University Medical Centers · NLGhent University Hospital · BEGreat Ormond Street Hospital for Children NHS Foundation Trust · GBUniversity of Lausanne · CHYokohama City University · JPCambridge University Hospitals NHS Foundation Trust · GBChildren's Hospital of Wisconsin · USRIKEN Center for Integrative Medical Sciences · JPRoyal Devon & Exeter NHS Foundation Trust · GBUniversité d'Angers · FRUniversité de Lille · FRUniversity of Sheffield · GBAgostino Gemelli University Polyclinic · ITBambino Gesù Children's Hospital · ITBirmingham Women’s and Children’s NHS Foundation Trust · GBGuy's and St Thomas' NHS Foundation Trust · GBKeio University · JP
Funding
UW Center for Mendelian GenomicsUM1HG006493 · NHGRI · UNIVERSITY OF WASHINGTON · PI BAMSHAD, MICHAEL JOSEPH, LEAL, SUZANNE M · 2016 to 2020
$15.3MMolecular Mechanisms of Axenfeld-Rieger SyndromeR01EY015518 · NEI · MEDICAL COLLEGE OF WISCONSIN · PI Elena V Semina · 2005 to 2026
$5.6MNHGRI Genome Sequencing Program Coordinating CenterU24HG008956 · NHGRI · RUTGERS, THE STATE UNIV OF N.J. · PI BUYSKE, STEVEN G, MATISE, TARA C. · 2016 to 2020
$4.9MMAB21L Family in Human Ocular Disease and DevelopmentR01EY025718 · NEI · MEDICAL COLLEGE OF WISCONSIN · PI SEMINA, ELENA V · 2017 to 2020
$1.4MHiSeq X SequencerS10OD021553 · OD · UNIVERSITY OF WASHINGTON · PI NICKERSON, DEBORAH A · 2016 to 2016
$600kMedical Research Council MC_EX_MR/M009203/1Medical Research Council MC_PC_14089Medical Research Council MR/M009203/1NEI NIH HHS R01 EY015518NEI NIH HHS R01 EY025718NHGRI NIH HHS U24 HG008956NHGRI NIH HHS UM1 HG006493NIH HHS S10 OD021553
Abstract
purposeThis study aimed to undertake a multidisciplinary characterization of the phenotype associated with SOX11 variants.
methodsIndividuals with protein altering variants in SOX11 were identified through exome and genome sequencing and international data sharing. Deep clinical phenotyping was undertaken by referring clinicians. Blood DNA methylation was assessed using Infinium MethylationEPIC array. The expression pattern of SOX11 in developing human brain was defined using RNAscope.
resultsWe reported 38 new patients with SOX11 variants. Idiopathic hypogonadotropic hypogonadism was confirmed as a feature of SOX11 syndrome. A distinctive pattern of blood DNA methylation was identified in SOX11 syndrome, separating SOX11 syndrome from other BAFopathies.
conclusionSOX11 syndrome is a distinct clinical entity with characteristic clinical features and episignature differentiating it from BAFopathies.
Indexed as
DNA MethylationHypogonadismKlinefelter SyndromeNeurodevelopmental DisordersSOXC Transcription FactorsExome SequencingHumansPhenotypeSOX11 protein, humanSOXC Transcription FactorsExomeGenome sequencingHypogonadismMethylationNeurodevelopmental disorderSOX11
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