De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment

CHAMP1 encodes a protein with a function in kinetochore-microtubule attachment and in the regulation of chromosome segregation, both of which are known to be important for neurodevelopment. By trio whole-exome sequencing, we have identified de novo deleterious mutations in CHAMP1 in five unrelated i...

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Publicado en:Am J Hum Genet
Autores principales: Hempel, Maja, Cremer, Kirsten, Ockeloen, Charlotte W., Lichtenbelt, Klaske D., Herkert, Johanna C., Denecke, Jonas, Haack, Tobias B., Zink, Alexander M., Becker, Jessica, Wohlleber, Eva, Johannsen, Jessika, Alhaddad, Bader, Pfundt, Rolph, Fuchs, Sigrid, Wieczorek, Dagmar, Strom, Tim M., van Gassen, Koen L.I., Kleefstra, Tjitske, Kubisch, Christian, Engels, Hartmut, Lessel, Davor
Formato: Artigo
Lenguaje:Inglês
Publicado: Elsevier 2015
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4564986/
https://ncbi.nlm.nih.gov/pubmed/26340335
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2015.08.003
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