Hydrocephalus due to multiple ependymal malformations is caused by mutations in the MPDZ gene.

Autor: Saugier-Veber, Pascale¹, Marguet, Florent², Lecoquierre, François¹, Adle-Biassette, Homa³, Guimiot, Fabien⁴, Cipriani, Sara⁵, Patrier, Sophie⁶, Brasseur-Daudruy, Marie⁷, Goldenberg, Alice⁸, Layet, Valérie⁹, Capri, Yline¹⁰, Gérard, Marion¹¹, Frébourg, Thierry¹, Laquerrière, Annie^2,12 Annie.laquerriere@chu-rouen.fr

Publikováno v: Acta Neuropathologica Communications. 5/1/2017, Vol. 5, p1-12. 12p.

Neuropathological hallmarks of fetal hydrocephalus linked to CCDC88C pathogenic variants

Autor: Florent Marguet, Myriam Vezain, Pascale Marcorelles, Séverine Audebert-Bellanger, Kévin Cassinari, Nathalie Drouot, Pascal Chambon, Bruno J. Gonzalez, Arie Horowitz, Annie Laquerriere, Pascale Saugier-Veber

Publikováno v: Acta Neuropathologica Communications, Vol 9, Iss 1, Pp 1-7 (2021)

Abstract The prevalence of congenital hydrocephalus has been estimated at 1.1 per 1000 infants when including cases diagnosed before 1 year of age after exclusion of neural tube defects. Classification criteria are based either on CSF dynamics, patho

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The genetic basis of hydrocephalus: genes, pathways, mechanisms, and global impact.

Autor: Hale, Andrew T.¹ (AUTHOR) andrewthale@uabmc.edu, Boudreau, Hunter¹ (AUTHOR), Devulapalli, Rishi² (AUTHOR), Duy, Phan Q.³ (AUTHOR), Atchley, Travis J.¹ (AUTHOR), Dewan, Michael C.⁴ (AUTHOR), Goolam, Mubeen⁵ (AUTHOR), Fieggen, Graham^5,6 (AUTHOR), Spader, Heather L.³ (AUTHOR), Smith, Anastasia A.⁷ (AUTHOR), Blount, Jeffrey P.⁷ (AUTHOR), Johnston, James M.⁷ (AUTHOR), Rocque, Brandon G.⁷ (AUTHOR), Rozzelle, Curtis J.⁷ (AUTHOR), Chong, Zechen⁸ (AUTHOR), Strahle, Jennifer M.⁹ (AUTHOR), Schiff, Steven J.¹⁰ (AUTHOR), Kahle, Kristopher T.¹¹ (AUTHOR)

Publikováno v: Fluids & Barriers of the CNS. 3/4/2024, Vol. 21 Issue 1, p1-135. 135p.

Expanding the spectrum of phenotypes for MPDZ: Report of four unrelated families and review of the literature.

Autor: Rad A; Department of Otolaryngology - Head and Neck Surgery, Tübingen Hearing Research Centre, Eberhard Karls University Tübingen, Tübingen, Germany., Bartsch O; Medical Care Centre Section Human Genetics and Institute of Human Genetics, University Medical Centre of the Johannes Gutenberg University Mainz, Mainz, Germany., Bakhtiari S; Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, Arizona, USA.; Department of Child Health, Cellular and Molecular Medicine, Genetics, and Neurology, University of Arizona College of Medicine-Phoenix, Phoenix, Arizona, USA., Zhu C; Center for Brain Repair and Rehabilitation, Institute of Neuroscience and Physiology, University of Gothenburg, Göteborg, Sweden.; Henan Key Laboratory of Child Brain Injury and Henan Pediatric Clinical Research Center, Institute of Neuroscience and Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China., Xu Y; Henan Key Laboratory of Child Brain Injury and Henan Pediatric Clinical Research Center, Institute of Neuroscience and Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China., Monteiro FP; Medical Department, Mendelics Genomic Analysis, Sao Paulo, Brazil., Kok F; Medical Department, Mendelics Genomic Analysis, Sao Paulo, Brazil.; Neurogenetics, Neurology Department, Hospital das Clínicas da Universidade de São Paulo, São Paulo, Brazil., Vulto-van Silfhout AT; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, the Netherlands.; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands., Kruer MC; Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, Arizona, USA.; Department of Child Health, Cellular and Molecular Medicine, Genetics, and Neurology, University of Arizona College of Medicine-Phoenix, Phoenix, Arizona, USA., Bowl MR; UCL Ear Institute, University College London, London, UK., Vona B; Department of Otolaryngology - Head and Neck Surgery, Tübingen Hearing Research Centre, Eberhard Karls University Tübingen, Tübingen, Germany.; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.; Institute for Auditory Neuroscience and InnerEarLab, University Medical Center Göttingen, Göttingen, Germany.

Publikováno v: Clinical genetics [Clin Genet] 2024 Oct; Vol. 106 (4), pp. 413-426. Date of Electronic Publication: 2024 Jun 10.