Cask Synthesis

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The CASK gene, located at Xp11.4, encodes a member of the membrane-associated guanylate kinase protein family, and it is vastly expressed in the mammalian nervous system of both adults and foetuses. CASK is an evolutionarily conserved multidomain protein composed of an N-terminal Ca2_/calmodulin-kinase domain, central PDZ and SH3 domains, and a C-terminal guanylate kinase domain. Many potential activities for CASK have been proposed, including functions in scaffolding the synapse, in regulating neuronal gene transcription and in organizing ion channels (Atasoy et al., 2007). Phenotypic spectrum associated with CASK loss-of-function mutations In the recent years, CASK irregularities caused by heterozygous mutations as well as deletions have…show more content…
In a study contacted by Moog et al., they characterised the CASK alteration in 20 female patients by molecular karyotyping, fluorescence in situ hybridisation, sequencing, reverse transcriptase (RT) and quantitative real-time PCR. They detected 11 submicroscopic copy number alterations, nine of which were deletions of ~11 kb to 4.5 Mb and two duplications, as well as four nonsense, and one 1 bp deletion (Moog et al., 2011). It was assumed that those heterozygous CASK mutations most probably lead to a null allele. Brain imaging consistently showed diffuse brainstem and cerebellar hypoplasia with varying degrees. Findings in this study revealed a key clinical phenotype…show more content…
Apart from the heterozygous deletions, each change including the intragenic duplications had likely caused an abnormal transcript, giving rise in CASK null mutations. These results provided novel mutations and copy number variations of CASK, causing ID with MICPCH, and also displayed evidence on the similarity of the phenotypes of ID with MICPCH regardless of the CASK

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