Article
Two microcephaly-associated novel missense mutations in CASK specifically disrupt the CASK-neurexin interaction.
Human genetics - 1 Mar 2018
LaConte Leslie E W, Chavan Vrushali, Elias Abdallah F, Hudson Cynthia, Schwanke Corbin, Styren Katie, Shoof Jonathan, Kok Fernando, Srivastava Sarika, Mukherjee Konark
Abstract excerpt
Deletion and truncation mutations in the X-linked gene CASK are associated with severe intellectual disability (ID), microcephaly and pontine and cerebellar hypoplasia in girls (MICPCH). The molecular origin of CASK-linked MICPCH is presumed to be due to disruption of the CASK-Tbr-1 interaction. This hypothesis, however, has not been directly tested. Missense variants in CASK are typically asymptomatic in girls....
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