ArticleGenetics in medicine : official journal of the American College of Medical Genetics2020
Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.
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Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 37 citations in OpenAlex.
- 7th International Workshop on SOX Transcription Factors.Biology open · 2026Article
- Osteoarthritis and depression a bidirectional TwoSample Mendelian randomization study on genetic causal association.BMC musculoskeletal disorders · 2026Article
- Residual Breast Cancer Cells Co-opt SOX5-Driven Endochondral Ossification to Maintain Dormancy.Cancer discovery · 2026Article
- Sox5 controls the establishment of quiescence in neural stem cells during postnatal development.PLoS biology · 2025Article
- Functional characterization of SOX5 variant causing Lamb-Shaffer syndrome and literature review of variants in the SOX5 gene.Orphanet journal of rare diseases · 2025Review
- A missense variant in the SOX5 gene (c.221C > T) is associated with intellectual disability.Orphanet journal of rare diseases · 2025Article
- The role of multidisciplinary diagnostic and therapeutic model of care in Lamb-Shaffer syndrome - case report.Journal of applied genetics · 2024Article
- Article
- Clinical cases series and pathogenesis of Lamb-Shaffer syndrome in China.Orphanet journal of rare diseases · 2024Article
- Biological functions and therapeutic potential of SRY related high mobility group box 5 in human cancer.Frontiers in oncology · 2024Review
- Identification of copy number variants with genome sequencing: Clinical experiences from the NYCKidSeq program.Clinical genetics · 2023Article
- Novel Variants ofInternational journal of molecular sciences · 2023Article
- Clinical characterization of Lamb-Shaffer syndrome: a case report and literature review.BMC medical genomics · 2023Review
- Neurodevelopmental disorder with dystonia due to SOX6 mutations.Molecular genetics & genomic medicine · 2022Article
- Paralogous Genes Involved in Embryonic Development: Lessons from the Eye and Other Tissues.Genes · 2022Review
- Shared genetic liability between major depressive disorder and osteoarthritis.Bone & joint research · 2022Article
- Action detection using a neural network elucidates the genetics of mouse grooming behavior.eLife · 2021Article
- De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.American journal of human genetics · 2020Article
- Sorting Sox: Diverse Roles for Sox Transcription Factors During Neural Crest and Craniofacial Development.Frontiers in physiology · 2020Review
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Authors and funding
86 authors at 20 institutions in 8 countries.
Ash Zawerton *Department of Cellular & Molecular Medicine, Cleveland Clinic Lerner Research Institute, Cleveland, OH, USA.
Cyril Mignot *INSERM U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France.
Ashley Sigafoos *Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN, USA.
Patrick R BlackburnCenter for Individualized Medicine, Department of Health Science Research, and Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.ORCID http://orcid.org/0000-0003-0658-1275
Abdul HaseebDepartment of Surgery, Division of Orthopaedic Surgery, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Kirsty McWalterGeneDx, Gaithersburg, MD, USA.ORCID http://orcid.org/0000-0002-1654-9036
Shoji IchikawaDepartment of Clinical Diagnostics, Ambry Genetics, Aliso Viejo, CA, USA.
Caroline NavaINSERM U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France.
Boris KerenINSERM U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France.
Perrine CharlesAP-HP, Hôpital Pitié-Salpêtrière, Département de Génétique et de Cytogénétique; Centre de Référence Déficiences Intellectuelles de Causes Rares, GRC UPMC « Déficience Intellectuelle et Autisme », Paris, France.
Isabelle MareyAP-HP, Hôpital Pitié-Salpêtrière, Département de Génétique et de Cytogénétique; Centre de Référence Déficiences Intellectuelles de Causes Rares, GRC UPMC « Déficience Intellectuelle et Autisme », Paris, France.
Anne-Claude TabetGenetics Department, Robert Debré Hospital, APHP, Paris, France.
Jonathan LevyGenetics Department, Robert Debré Hospital, APHP, Paris, France.
Laurence PerrinGenetics Department, Robert Debré Hospital, APHP, Paris, France.
Andreas HartmannINSERM U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France.
Gaetan LescaService de Génétique, Hospices Civils de Lyon - GHE, Lyon, France.
Caroline Schluth-BolardService de Génétique, Hospices Civils de Lyon - GHE, Lyon, France.
Pauline MoninService de Génétique, Hospices Civils de Lyon - GHE, Lyon, France.
Sophie Dupuis-GirodService de Génétique, Hospices Civils de Lyon - GHE, Lyon, France.
Maria J Guillen SacotoGeneDx, Gaithersburg, MD, USA.
Rhonda E SchnurGeneDx, Gaithersburg, MD, USA.
Zehua ZhuGeneDx, Gaithersburg, MD, USA.ORCID http://orcid.org/0000-0001-7181-1263
Alice PoissonGénoPsy, Reference Center for Diagnosis and Management of Genetic Psychiatric Disorders, Centre Hospitalier le Vinatier and EDR-Psy Team (CNRS & Lyon 1 Claude Bernard University), Lyon, France.
Salima El ChehadehDépartement de Génétique Médicale, CHU de Hautepierre, Strasbourg, France.
Yves AlembikDépartement de Génétique Médicale, CHU de Hautepierre, Strasbourg, France.
Ange-Line BruelINSERM 1231 LNC, Génétique des Anomalies du Développement, Université de Bourgogne-Franche Comté, Dijon, France.
Daphné LehalleINSERM 1231 LNC, Génétique des Anomalies du Développement, Université de Bourgogne-Franche Comté, Dijon, France.ORCID http://orcid.org/0000-0002-2193-8685
Sophie NambotINSERM 1231 LNC, Génétique des Anomalies du Développement, Université de Bourgogne-Franche Comté, Dijon, France.ORCID http://orcid.org/0000-0002-9630-5049
Sébastien MouttonINSERM 1231 LNC, Génétique des Anomalies du Développement, Université de Bourgogne-Franche Comté, Dijon, France.
Sylvie OdentCHU de Rennes, service de génétique clinique, Rennes, France.
Sylvie JaillardUniv Rennes, CHU Rennes, Inserm, EHESP, Irset (Institut de recherche en santé, environnement et travail) - UMR_S 1085, Rennes, France.
Christèle DubourgUniv Rennes, CNRS, IGDR, UMR 6290, Rennes, France.ORCID http://orcid.org/0000-0003-1345-4522
Yvonne Hilhorst-HofsteeDepartment of Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands.
Tina Barbaro-DieberCook Childrens Medical Center, Fort Worth, TX, USA.
Lucia OrtegaCook Childrens Medical Center, Fort Worth, TX, USA.
Elizabeth J BhojDepartment of Clinical Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Diane Masser-FryeRady Children's Hospital San Diego, Division of Genetics and Dysmorphology, San Diego, CA, USA.
Lynne M BirdRady Children's Hospital San Diego, Division of Genetics and Dysmorphology, San Diego, CA, USA.ORCID http://orcid.org/0000-0003-4833-3747
Kristin LindstromDivision of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix, AZ, USA.
Keri M RamseyTranslational Genomics Research Institute (TGen), Center for Rare Childhood Disorders, Phoenix, AZ, USA.
Vinodh NarayananTranslational Genomics Research Institute (TGen), Center for Rare Childhood Disorders, Phoenix, AZ, USA.
Emily FassiDivision of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA.ORCID http://orcid.org/0000-0002-9783-0013
Marcia WillingDivision of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA.
Trevor ColeWest Midlands Regional Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.
Claire G SalterWest Midlands Regional Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.
Rhoda AkilapaNorth West Thames Regional Genetics Service, Northwick Park Hospital, Harrow, London, UK.
Anthony VandersteenIWK Health Centre, Dalhousie University, Halifax, NS, Canada.ORCID http://orcid.org/0000-0002-2037-1250
Natalie CanhamNorth West Thames Regional Genetics Service, Northwick Park Hospital, London, UK.
Patrick RumpDepartment of Genetics, University of Groningen, University Medical Center Groningen, Groningen, Netherlands.
Erica H GerkesDepartment of Genetics, University of Groningen, University Medical Center Groningen, Groningen, Netherlands.
Jolien S Klein Wassink-RuiterDepartment of Genetics, University of Groningen, University Medical Center Groningen, Groningen, Netherlands.
Emilia BijlsmaDepartment of Genetics, University of Groningen, University Medical Center Groningen, Groningen, Netherlands.
Mariëtte J V HofferDepartment of Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands.
Marcelo VargasGillette Children's Specialty Healthcare, St. Paul, MN, USA.
Antonina WojcikGillette Children's Specialty Healthcare, St. Paul, MN, USA.
Florian CherikService de génétique clinique, Centre de Référence Maladies Rares «Anomalies du Développement et syndromes malformatifs du Sud-Est", CHU de Clermont-Ferrand, Clermont-Ferrand, France.
Christine FrancannetService de génétique clinique, Centre de Référence Maladies Rares «Anomalies du Développement et syndromes malformatifs du Sud-Est", CHU de Clermont-Ferrand, Clermont-Ferrand, France.
Jill A RosenfeldDepartment of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA.ORCID http://orcid.org/0000-0001-5664-7987
Keren MacholDepartment of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA.ORCID http://orcid.org/0000-0003-0356-6889
Daryl A ScottDepartment of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA.ORCID http://orcid.org/0000-0003-1460-5169
Carlos A BacinoDepartment of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Xia WangDepartment of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA.ORCID http://orcid.org/0000-0002-7750-1167
Gary D ClarkPediatrics-Neurology, Baylor College of Medicine, Houston, TX, USA.
Marta BertoliNorthern Genetics Service-Newcastle upon Tyne NHS Foundation Trust, Newcastle upon Tyne, UK.
Simon ZwolinskiNorthern Genetics Service-Newcastle upon Tyne NHS Foundation Trust, Newcastle upon Tyne, UK.ORCID http://orcid.org/0000-0001-7565-3549
Rhys H ThomasInstitute of Neuroscience, Newcastle University, Framlington Place, Newcastle upon Tyne, UK.ORCID http://orcid.org/0000-0003-2062-8623
Ela AkayDepartment of Neurology, Royal Victoria Infirmary, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
Richard C ChangDivision of Metabolic Disorders, Children's Hospital of Orange County (CHOC), Orange, CA, USA.
Rebekah BressiDivision of Metabolic Disorders, Children's Hospital of Orange County (CHOC), Orange, CA, USA.
Rossana Sanchez RussoDepartment of Human Genetics, Emory Universit, Atlanta, GA, USA.
Myriam SrourDivision of Pediatric Neurology, Department of Pediatrics, Montreal Children's Hospital, McGill University Health Center, Montreal, QC, Canada.
Laura RussellDivision of Medical Genetics, Department of Specialized Medicine, McGill University, Montreal, QC, Canada.
Anne-Marie E GoyetteChild Development Program, Department of Pediatrics, Montreal Children's Hospital, McGill University Health Center, Montreal, QC, Canada.
Lucie DupuisDivision of Clinical and Metabolic Genetics, The Hospital for Sick Children and University of Toronto, Toronto, ON, Canada.ORCID http://orcid.org/0000-0002-6068-8199
Roberto Mendoza-LondonoDivision of Clinical and Metabolic Genetics, The Hospital for Sick Children and University of Toronto, Toronto, ON, Canada.ORCID http://orcid.org/0000-0003-3542-8106
Catherine KarimovChildren's hospital of Los Angeles, Los Angeles, CA, USA.
Maries JosephMedical Genetics and Metabolism, Valley Children's Hospital, Madera, CA, USA.
Mathilde NizonCHU Nantes, Service de Génétique Médicale, Nantes, France.ORCID http://orcid.org/0000-0003-2170-4210
Benjamin CognéCHU Nantes, Service de Génétique Médicale, Nantes, France.
Alma KuechlerInstitut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.
Amélie PitonLaboratoire de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
Deciphering Developmental Disorder
Study
Eric W KleeCenter for Individualized Medicine, Department of Health Science Research, and Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
Véronique LefebvreDepartment of Surgery, Division of Orthopaedic Surgery, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. lefebvrev1@email.chop.edu.
Karl J ClarkDepartment of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN, USA.
Christel DepienneINSERM U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France. christel.depienne@uni-due.de.ORCID http://orcid.org/0000-0002-7212-9554
Centre National de la Recherche Scientifique · FRBaylor College of Medicine · USInserm · FRNewcastle upon Tyne Hospitals NHS Foundation Trust · GBUniversity Medical Center Groningen · NLChildren's Hospital of Philadelphia · USUniversité Claude Bernard Lyon 1 · FRAssistance Publique – Hôpitaux de Paris · FRCentre Hospitalier Universitaire de Clermont-Ferrand · FRChildren's Hospital of Orange County · USCook Children's Medical Center · USHospices Civils de Lyon · FRLeiden University Medical Center · NLMayo Clinic · USMayo Clinic in Arizona · USMinnesota West Community & Technical College · USMontreal Children's Hospital · CASorbonne Université · FRTranslational Genomics Research Institute · USUniversity of Toronto · CA
Funding
Roles of SOX8 and SOX9 in Adult Articular CartilageR01AR072649 · NIAMS · CHILDREN'S HOSP OF PHILADELPHIA · PI LEFEBVRE, VERONIQUE M · 2018 to 2022
$2.9MNIAMS NIH HHS R01 AR072649Wellcome Trust
Abstract
purposeLamb-Shaffer syndrome (LAMSHF) is a neurodevelopmental disorder described in just over two dozen patients with heterozygous genetic alterations involving SOX5, a gene encoding a transcription factor regulating cell fate and differentiation in neurogenesis and other discrete developmental processes. The genetic alterations described so far are mainly microdeletions. The present study was aimed at increasing our understanding of LAMSHF, its clinical and genetic spectrum, and the pathophysiological mechanisms involved.
methodsClinical and genetic data were collected through GeneMatcher and clinical or genetic networks for 41 novel patients harboring various types ofSOX5 alterations. Functional consequences of selected substitutions were investigated.
resultsMicrodeletions and truncating variants occurred throughout SOX5. In contrast, most missense variants clustered in the pivotal SOX-specific high-mobility-group domain. The latter variants prevented SOX5 from binding DNA and promoting transactivation in vitro, whereas missense variants located outside the high-mobility-group domain did not. Clinical manifestations and severity varied among patients. No clear genotype-phenotype correlations were found, except that missense variants outside the high-mobility-group domain were generally better tolerated.
conclusionsThis study extends the clinical and genetic spectrum associated with LAMSHF and consolidates evidence that SOX5 haploinsufficiency leads to variable degrees of intellectual disability, language delay, and other clinical features.
Indexed as
AdolescentAdultAnimalsChildChild, PreschoolDNA-Binding ProteinsFemaleGenetic Predisposition to DiseaseHaploinsufficiencyHumansInfantIntellectual DisabilityLanguage Development DisordersMaleMutation, MissenseNeurodevelopmental DisordersDNA-Binding ProteinsSOX5 protein, humanSOXD Transcription Factorsautismdevelopmental delayepilepsyintellectual disabilitymissense variants.
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