De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity.

Autor: Tessarech M; Department of Medical Genetics, Angers University Hospital, Angers, France; Mitovasc Unit, UMR CNRS 6015 INSERM 1083, University of Angers, Angers, France. Electronic address: marine.tessarech@chu-lille.fr., Friocourt G; INSERM, Univ Brest, EFS, UMR 1078, GGB, Brest, France., Marguet F; Univ Rouen Normandie, INSERM U1245 and Rouen University Hospital, Department of Pathology, Rouen, France., Lecointre M; Univ Rouen Normandie, INSERM U1245 and Rouen University Hospital, Department of Pathology, Rouen, France., Le Mao M; Mitovasc Unit, UMR CNRS 6015 INSERM 1083, University of Angers, Angers, France., Díaz RM; Mitovasc Unit, UMR CNRS 6015 INSERM 1083, University of Angers, Angers, France., Mignot C; Department of Genetics, Center for Rare Causes of Intellectual Disabilities and UPMC Research Group 'Intellectual Disabilities and Autism' Paris, France., Keren B; Department of Genetics, Center for Rare Causes of Intellectual Disabilities and UPMC Research Group 'Intellectual Disabilities and Autism' Paris, France; Department of Genetics, La Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France., Héron B; Sorbonne University, UPMC Univ Paris 06, UMR S 1127, INSERM U 1127, CNRS UMR 7225, ICM, Paris, France; Department of Pediatric Neurology, Reference Center of Lysosomal Diseases, Trousseau Hospital, APHP, GRC ConCer-LD, Sorbonne Universities, UPMC University, Paris, France., De Bie C; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Van Gassen K; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Loisel D; Department of Radiology, Angers University Hospital, Angers, France., Delorme B; Department of Radiology, Angers University Hospital, Angers, France., Syrbe S; Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg, Germany., Klabunde-Cherwon A; Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg, Germany., Jamra RA; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany., Wegler M; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany., Callewaert B; Center for Medical Genetics, Department of Biomolecular Medicine, Gent, Belgium., Dheedene A; Center for Medical Genetics, Department of Biomolecular Medicine, Gent, Belgium., Zidane-Marinnes M; Department of Pathology, Angers University Hospital, Angers, France., Guichet A; Department of Medical Genetics, Angers University Hospital, Angers, France; Mitovasc Unit, UMR CNRS 6015 INSERM 1083, University of Angers, Angers, France., Bris C; Department of Medical Genetics, Angers University Hospital, Angers, France; Mitovasc Unit, UMR CNRS 6015 INSERM 1083, University of Angers, Angers, France., Van Bogaert P; Department of Neuropediatrics, Angers University Hospital, Angers, France., Biquard F; Department of Gynecology, Angers University Hospital, Angers, France., Lenaers G; Mitovasc Unit, UMR CNRS 6015 INSERM 1083, University of Angers, Angers, France., Marcorelles P; Department of Pathology, Brest University Hospital, Brest, France., Ferec C; INSERM, Univ Brest, EFS, UMR 1078, GGB, Brest, France., Gonzalez B; Univ Rouen Normandie, INSERM U1245 and Rouen University Hospital, Department of Pathology, Rouen, France., Procaccio V; Department of Medical Genetics, Angers University Hospital, Angers, France; Mitovasc Unit, UMR CNRS 6015 INSERM 1083, University of Angers, Angers, France., Vitobello A; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD (Génétique des Anomalies du Développement), FHU-TRANSLAD, Dijon, France; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Bonneau D; Department of Medical Genetics, Angers University Hospital, Angers, France; Mitovasc Unit, UMR CNRS 6015 INSERM 1083, University of Angers, Angers, France., Laquerriere A; Univ Rouen Normandie, INSERM U1245 and Rouen University Hospital, Department of Pathology, Rouen, France., Khiati S; Mitovasc Unit, UMR CNRS 6015 INSERM 1083, University of Angers, Angers, France., Colin E; Department of Medical Genetics, Angers University Hospital, Angers, France; Mitovasc Unit, UMR CNRS 6015 INSERM 1083, University of Angers, Angers, France. Electronic address: escolin@chu-angers.fr.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 May; Vol. 26 (5), pp. 101087. Date of Electronic Publication: 2024 Jan 27.

Roles of SP/KLF transcription factors in odontoblast differentiation: From development to diseases.

Autor: Wang X; Stomatology Hospital, School of Stomatology, Zhejiang University School of Medicine, Zhejiang Provincial Clinical Research Center for Oral Diseases, Key Laboratory of Oral Biomedical Research of Zhejiang Province, Cancer Center of Zhejiang University, Engineering Research Center of Oral Biomaterials and Devices of Zhejiang Province, Hangzhou, China., Sun K; Stomatology Hospital, School of Stomatology, Zhejiang University School of Medicine, Zhejiang Provincial Clinical Research Center for Oral Diseases, Key Laboratory of Oral Biomedical Research of Zhejiang Province, Cancer Center of Zhejiang University, Engineering Research Center of Oral Biomaterials and Devices of Zhejiang Province, Hangzhou, China., Xu Z; Stomatology Hospital, School of Stomatology, Zhejiang University School of Medicine, Zhejiang Provincial Clinical Research Center for Oral Diseases, Key Laboratory of Oral Biomedical Research of Zhejiang Province, Cancer Center of Zhejiang University, Engineering Research Center of Oral Biomaterials and Devices of Zhejiang Province, Hangzhou, China., Chen Z; Stomatology Hospital, School of Stomatology, Zhejiang University School of Medicine, Zhejiang Provincial Clinical Research Center for Oral Diseases, Key Laboratory of Oral Biomedical Research of Zhejiang Province, Cancer Center of Zhejiang University, Engineering Research Center of Oral Biomaterials and Devices of Zhejiang Province, Hangzhou, China., Wu W; Stomatology Hospital, School of Stomatology, Zhejiang University School of Medicine, Zhejiang Provincial Clinical Research Center for Oral Diseases, Key Laboratory of Oral Biomedical Research of Zhejiang Province, Cancer Center of Zhejiang University, Engineering Research Center of Oral Biomaterials and Devices of Zhejiang Province, Hangzhou, China.

Publikováno v: Oral diseases [Oral Dis] 2024 Sep; Vol. 30 (6), pp. 3745-3760. Date of Electronic Publication: 2024 Feb 26.

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