ArticleJournal of human genetics2019
Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.
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Article in 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 44 papers.
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44citing papers in PubMed
2.6field-weighted citation impact, top 9% of its field
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Who cites it
44 citing papers in PubMed, 67 citations in OpenAlex.
- Defining Pseudo-Haplotype Analysis Reveals Multi-Gene Genetic Pattern Across BAF Chromatin Remodeling Complexes.bioRxiv : the preprint server for biology · 2026Article
- Article
- Expanding the Coffin-Siris syndrome spectrum: genetic, dysmorphic, and endocrine findings in eight cases.European journal of pediatrics · 2026Article
- Case Report: novel mutations in SMARCA4 cause Coffin-Siris syndrome type 4 with autism spectrum disorder without visual impairment in one patient.Frontiers in genetics · 2026Article
- A Coffin-Siris syndrome-associated mutation modeled in Caenorhabditis elegans affects multiple developmental processes.G3 (Bethesda, Md.) · 2025Article
- SMARCB1-related schwannomatosis and other SMARCB1-associated phenotypes: clinical spectrum and molecular pathogenesis.Familial cancer · 2025Review
- Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- Expanding the Spectrum of Endocrine Abnormalities Associated With SOX11-related Disorders.The Journal of clinical endocrinology and metabolism · 2025Article
- KNTC1 introduces segmental heterogeneity to mitochondria.Disease models & mechanisms · 2025Article
- SWI/SNF Complex Connects Signaling and Epigenetic State in Cells of Nervous System.Molecular neurobiology · 2025Review
- Novel variants in the SOX11 gene: clinical description of seven new patients.European journal of human genetics : EJHG · 2024Article
- A novel mutation in SMARCB1 associated with adult Coffin-Siris syndrome and meningioma.Acta biochimica et biophysica Sinica · 2024Article
- PHF6 cooperates with SWI/SNF complexes to facilitate transcriptional progression.Nature communications · 2024Article
- Adopting a Point-of-Care Model for Genetic Testing in Children With Developmental Delays: A Case Report.Cureus · 2024Article
- Frameshift Variant inJournal of pediatric genetics · 2024Article
- Identifying regulators of aberrant stem cell and differentiation activity in colorectal cancer using a dual endogenous reporter system.Nature communications · 2024Article
- Utilizing a dual endogenous reporter system to identify functional regulators of aberrant stem cell and differentiation activity in colorectal cancer.bioRxiv : the preprint server for biology · 2024Article
- Intellectual Disability and Blended Phenotypes: Insights from a Centre in North India.Case reports in genetics · 2024Article
- Article
- Article
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Authors and funding
79 authors at 20 institutions in 11 countries.
Futoshi SekiguchiDepartment of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan.
Yoshinori TsurusakiDepartment of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan.
Nobuhiko OkamotoDepartment of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, Japan.
Keng Wee TeikDepartment of Genetics, Hospital Kuala Lumpur, Kuala Lumpur, Malaysia.
Seiji MizunoDepartment of Clinical Genetics, Central Hospital, Aichi Developmental Disability Center, Kasugai, Japan.
Hiroshi SuzumuraDepartment of Pediatrics, Dokkyo Medical University, Tochigi, Japan.
Bertrand IsidorCHU Nantes, Service de Genetique Medicale, Nantes, France.
Winnie Peitee OngDepartment of Genetics, Hospital Kuala Lumpur, Kuala Lumpur, Malaysia.
Muzhirah HaniffaDepartment of Genetics, Hospital Kuala Lumpur, Kuala Lumpur, Malaysia.
Susan M WhiteVictorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.
Mari MatsuoInstitute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan.
Kayoko SaitoInstitute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan.
Shubha PhadkeDepartment of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.
Tomoki KoshoDepartment of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan.
Patrick YapGenetic Health Service New Zealand, Auckland, New Zealand.
Manisha GoyalRare Disease Clinic, J K Lone Hospital, SMS Medical College, Jaipur, Rajasthan, India.
Lorne A ClarkeBritish Columbia Children's Hospital Research Institute, University of British Columbia, Vancouver, BC, Canada.
Rani SachdevCentre for Clinical Genetics, Sydney Children's Hospital, Randwick, NSW, Australia.
George McGillivrayVictorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.
Richard J LeventerRoyal Children's Hospital Department of Neurology, Murdoch Children's Research Institute and University of Melbourne Department of Pediatrics, Parkville, 3052, Australia.
Chirag PatelGenetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, QLD, Australia.
Takanori YamagataDepartment of Pediatrics, Jichi Medical University, Tochigi, Japan.
Hitoshi OsakaDepartment of Pediatrics, Jichi Medical University, Tochigi, Japan.ORCID http://orcid.org/0000-0002-1320-1165
Yoshiya HisaedaDepartment of Neonatology, Japanese Red Cross Medical Center, Tokyo, Japan.
Hirofumi OhashiDivision of Medical Genetics, Saitama Children's Medical Center, Saitama, Japan.
Kenji ShimizuDivision of Medical Genetics, Saitama Children's Medical Center, Saitama, Japan.ORCID http://orcid.org/0000-0002-2732-8722
Keisuke NagasakiDepartment of Homeostatic Regulation and Development, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
Junpei HamadaDepartment of Pediatrics, Ehime University Graduate School of Medicine, Ehime, Japan.
Sumito DatekiDepartment of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.
Takashi SatoAsahikawa-Kosei General Hospital, Hokkaido, Japan.
Yasutsugu ChinenDepartment of Child Health and Welfare, Graduate School of Medicine, University of the Ryukyus, Nishihara, Japan.
Tomonari AwayaDepartment of Anatomy and Developmental Biology, Graduate School of Medicine, Kyoto University, Kyoto, Japan.ORCID http://orcid.org/0000-0002-9004-3172
Takeo KatoDepartment of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
Kougoro IwanagaDepartment of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
Masahiko KawaiDepartment of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
Takashi MatsuokaDepartment of General Pediatrics, Okinawa Prefectural Nanbu Medical Center and Children's Medical Center, Okinawa, Japan.
Yoshikazu ShimojiDepartment of General Pediatrics, Okinawa Prefectural Nanbu Medical Center and Children's Medical Center, Okinawa, Japan.
Tiong Yang TanVictorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.
Seema KapoorDivision of Genetics, Department of Pediatrics, Maulana Azad Medical College, New Delhi, India.
Nerine GregersenGenetic Health Service New Zealand, Auckland, New Zealand.
Massimiliano RossiHospices Civils de Lyon, Service de Génétique, Centre de Référence Anomalies du Développement, and INSERM U1028, CNRS UMR5292, CRNL, GENDEV Team, UCBL1, Bron, France.
Mathieu Marie-LaureHospices Civils de Lyon, Service de Génétique, Centre de Référence Anomalies du Développement, and INSERM U1028, CNRS UMR5292, CRNL, GENDEV Team, UCBL1, Bron, France.
Lesley McGregorSouth Australian Clinical Genetics Service, SA Pathology, Women's and Children's Hospital, Adelaide, Australia.
Kimihiko OishiDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Lakshmi MehtaDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Greta GilliesBruce Lefroy Centre for Genetic Health Research, Murdoch Children's Research Institute, Victoria, Australia.
Paul J LockhartBruce Lefroy Centre for Genetic Health Research, Murdoch Children's Research Institute, Victoria, Australia.
Kate PopeBruce Lefroy Centre for Genetic Health Research, Murdoch Children's Research Institute, Victoria, Australia.
Anju ShuklaDepartment of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
Katta Mohan GirishaDepartment of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.ORCID http://orcid.org/0000-0002-0139-8239
Ghada M H Abdel-SalamDepartment of Clinical Genetics, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
David MowatDepartment of Medical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia.
David ComanDepartment of Paediatrics, The Wesley Hospital, Brisbane, QLD, Australia.
Ok Hwa KimDepartment of Radiology, Ajou University Hospital, Suwon, Korea.
Marie-Pierre CordierService de Genetique, Hospices Civils de Lyon, Bron, France.
Kate GibsonGenetic Health Service New Zealand, Christchurch Hospital, Christchurch, New Zealand.
Jeff MilunskyCenter for Human Genetics Inc, Cambridge, MA, USA.
Jan LiebeltSouth Australian Clinical Genetics Services, Women's and Children's Hospital, North Adelaide, Australia.
Helen CoxWest Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham Women's Hospital, Edgbaston, Birmingham, B15 2TG, UK.
Salima El ChehadehService de Genetique Medicale, Hopital de Hautepierre, Strasbourg, France.
Annick ToutainService de Genetique, CHRU de Tours, Tours, France.ORCID http://orcid.org/0000-0002-5999-5300
Ken SaidaDepartment of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan.
Hiromi AoiDepartment of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan.
Gaku MinaseDepartment 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.
Kazuhiro IwamaDepartment of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan.
Yuri UchiyamaDepartment of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan.ORCID http://orcid.org/0000-0002-4540-5277
Toshifumi SuzukiDepartment of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan.
Kohei HamanakaDepartment of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan.
Yoshiteru AzumaDepartment of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan.
Atsushi FujitaDepartment of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan.
Eri ImagawaDepartment of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan.
Eriko KoshimizuDepartment of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan.
Atsushi TakataDepartment of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan.
Satomi MitsuhashiDepartment of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan.
Satoko MiyatakeDepartment of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan.
Takeshi MizuguchiDepartment of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan.
Noriko MiyakeDepartment 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. naomat@yokohama-cu.ac.jp.
Yokohama City University · JPKyoto University · JPHospital Kuala Lumpur · MYMurdoch Children's Research Institute · AUIcahn School of Medicine at Mount Sinai · USJichi Medical University · JPJuntendo University · JPManipal Academy of Higher Education · INSaitama Children's Medical Center · JPSydney Children's Hospital · AUThe University of Melbourne · AUTokyo Women's Medical University · JPUniversité Claude Bernard Lyon 1 · FRYokohama City University Hospital · JPAichi Developmental Disability Center · JPAjou University Hospital · KRAsahikawa Kosei Hospital · JPBirmingham Women's Hospital · GBCenter for Human Genetics · USCentre Hospitalier Universitaire de Tours · FR
Funding
Japan Agency for Medical Research and Development (AMED) JP19ek0109280, JP19dm0107090, JP19ek0109301, JP19ek0109348, and JP18kk020501
Abstract
Coffin-Siris syndrome (CSS, MIM#135900) is a congenital disorder characterized by coarse facial features, intellectual disability, and hypoplasia of the fifth digit and nails. Pathogenic variants for CSS have been found in genes encoding proteins in the BAF (BRG1-associated factor) chromatin-remodeling complex. To date, more than 150 CSS patients with pathogenic variants in nine BAF-related genes have been reported. We previously reported 71 patients of whom 39 had pathogenic variants. Since then, we have recruited an additional 182 CSS-suspected patients. We performed comprehensive genetic analysis on these 182 patients and on the previously unresolved 32 patients, targeting pathogenic single nucleotide variants, short insertions/deletions and copy number variations (CNVs). We confirmed 78 pathogenic variations in 78 patients. Pathogenic variations in ARID1B, SMARCB1, SMARCA4, ARID1A, SOX11, SMARCE1, and PHF6 were identified in 48, 8, 7, 6, 4, 1, and 1 patients, respectively. In addition, we found three CNVs including SMARCA2. Of particular note, we found a partial deletion of SMARCB1 in one CSS patient and we thoroughly investigated the resulting abnormal transcripts.
Indexed as
Abnormalities, MultipleCohort StudiesFaceGenetic Association StudiesGenetic Predisposition to DiseaseGenetic VariationHand Deformities, CongenitalHumansIntellectual DisabilityMicrognathismNeck
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