Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss

Autor: Richard, Elodie M., Bakhtiari, Somayeh, Marsh, Ashley P.L., Kaiyrzhanov, Rauan, Wagner, Matias, Shetty, Sheetal, Pagnozzi, Alex, Nordlie, Sandra M., Guida, Brandon S., Cornejo, Patricia, Magee, Helen, Liu, James, Norton, Bethany Y., Webster, Richard I., Worgan, Lisa, Hakonarson, Hakon, Li, Jiankang, Guo, Yiran, Jain, Mahim, Blesson, Alyssa, Rodan, Lance H., Abbott, Mary-Alice, Comi, Anne, Cohen, Julie S., Alhaddad, Bader, Meitinger, Thomas, Lenz, Dominic, Ziegler, Andreas, Kotzaeridou, Urania, Brunet, Theresa, Chassevent, Anna, Smith-Hicks, Constance, Ekstein, Joseph, Weiden, Tzvi, Hahn, Andreas, Zharkinbekova, Nazira, Turnpenny, Peter, Tucci, Arianna, Yelton, Melissa, Horvath, Rita, Gungor, Serdal, Hiz, Semra, Oktay, Yavuz, Lochmuller, Hanns, Zollino, Marcella, Morleo, Manuela, Marangi, Giuseppe, Nigro, Vincenzo, Torella, Annalaura, Pinelli, Michele, Amenta, Simona, Husain, Ralf A., Grossmann, Benita, Rapp, Marion, Steen, Claudia, Marquardt, Iris, Grimmel, Mona, Grasshoff, Ute, Korenke, G. Christoph, Owczarek-Lipska, Marta, Neidhardt, John, Radio, Francesca Clementina, Mancini, Cecilia, Claps Sepulveda, Dianela Judith, McWalter, Kirsty, Begtrup, Amber, Crunk, Amy, Guillen Sacoto, Maria J., Person, Richard, Schnur, Rhonda E., Mancardi, Maria Margherita, Kreuder, Florian, Striano, Pasquale, Zara, Federico, Chung, Wendy K., Marks, Warren A., van Eyk, Clare L., Webber, Dani L., Corbett, Mark A., Harper, Kelly, Berry, Jesia G., MacLennan, Alastair H., Gecz, Jozef, Tartaglia, Marco, Salpietro, Vincenzo, Christodoulou, John, Kaslin, Jan, Padilla-Lopez, Sergio, Bilguvar, Kaya, Munchau, Alexander, Ahmed, Zubair M., Hufnagel, Robert B., Fahey, Michael C., Maroofian, Reza, Houlden, Henry, Sticht, Heinrich, Mane, Shrikant M., Rad, Aboulfazl, Vona, Barbara, Jin, Sheng Chih, Haack, Tobias B., Makowski, Christine, Hirsch, Yoel, Riazuddin, Saima, Kruer, Michael C.

Publikováno v: In The American Journal of Human Genetics 7 October 2021 108(10):2006-2016

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VAC14 syndrome in two siblings with retinitis pigmentosa and neurodegeneration with brain iron accumulation.

Autor: Lyon GJ; NYS Institute for Basic Research in Developmental Disabilities (IBR), Staten Island, New York 10314, USA., Marchi E; NYS Institute for Basic Research in Developmental Disabilities (IBR), Staten Island, New York 10314, USA., Ekstein J; Dor Yeshorim, Committee for Prevention of Jewish Genetic Diseases, Brooklyn, New York 11211, USA., Meiner V; Faculty of Medicine, Hebrew University, Jerusalem 9112001, Israel.; Department of Genetics and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem 9112001, Israel., Hirsch Y; Dor Yeshorim, Committee for Prevention of Jewish Genetic Diseases, Brooklyn, New York 11211, USA., Scher S; Dor Yeshorim, Committee for Prevention of Jewish Genetic Diseases, Brooklyn, New York 11211, USA., Yang E; Department of Radiology, Boston Children's Hospital, 300 Longwood Avenue, Boston, Massachusetts 02115, USA., De Vivo DC; Columbia University Irving Medical Center, The Neurological Institute, New York, New York 10032, USA., Madrid R; NYS Institute for Basic Research in Developmental Disabilities (IBR), Staten Island, New York 10314, USA., Li Q; Princess Margaret Cancer Centre, University Health Network, University of Toronto, Toronto, Ontario M5G 2C1, Canada., Wang K; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA., Haworth A; Congenica Ltd, Biodata Innovation Centre, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, United Kingdom., Chilton I; Departments of Pediatrics and Medicine, Columbia University Medical Center, New York, New York 10032, USA., Chung WK; Departments of Pediatrics and Medicine, Columbia University Medical Center, New York, New York 10032, USA., Velinov M; NYS Institute for Basic Research in Developmental Disabilities (IBR), Staten Island, New York 10314, USA.

Publikováno v: Cold Spring Harbor molecular case studies [Cold Spring Harb Mol Case Stud] 2019 Dec 13; Vol. 5 (6). Date of Electronic Publication: 2019 Dec 13 (Print Publication: 2019).