Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies

PURPOSE: Haploinsufficiency of USP7, located at chromosome 16p13.2, has recently been reported in seven individuals with neurodevelopmental phenotypes, including developmental delay/intellectual disability (DD/ID), autism spectrum disorder (ASD), seizures, and hypogonadism. Further, USP7 was identif...

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Publicado en:Genet Med
Autores principales: Fountain, Michael D., Oleson, David S., Rech, Megan E., Segebrecht, Lara, Hunter, Jill V., McCarthy, John M., Lupo, Philip J., Holtgrewe, Manuel, Moran, Rocio, Rosenfeld, Jill A., Isidor, Bertrand, Le Caignec, Cédric, Saenz, Margarita S., Pedersen, Robert C., Morgan, Thomas M., Pfotenhauer, Jean P., Xia, Fan, Bi, Weimin, Kang, Sung-Hae L., Patel, Ankita, Krantz, Ian D., Raible, Sarah E., Smith, Wendy, Cristian, Ingrid, Torti, Erin, Juusola, Jane, Millan, Francisca, Wentzensen, Ingrid M., Person, Richard E., Küry, Sébastien, Bézieau, Stéphane, Uguen, Kévin, Férec, Claude, Munnich, Arnold, van Haelst, Mieke, Lichtenbelt, Klaske D., van Gassen, Koen, Hagelstrom, Tanner, Chawla, Aditi, Perry, Denise L., Taft, Ryan J., Jones, Marilyn, Masser-Frye, Diane, Dyment, David, Venkateswaran, Sunita, Li, Chumei, Escobar, Luis F., Horn, Denise, Spillmann, Rebecca C., Peña, Loren, Wierzba, Jolanta, Strom, Tim M., Parenti, Ilaria, Kaiser, Frank J., Ehmke, Nadja, Schaaf, Christian P.
Formato: Artigo
Lenguaje:Inglês
Publicado: Nature Publishing Group US 2019
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC6752677/
https://ncbi.nlm.nih.gov/pubmed/30679821
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-019-0433-1
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