Novel CASK mutations in cases with syndromic microcephaly.

Abstract:

:Mutations in CASK cause a wide spectrum of phenotypes in humans ranging from mild X-linked intellectual disability to a severe microcephaly (MC) and pontocerebellar hypoplasia syndrome. Nevertheless, predicting pathogenicity and phenotypic consequences of novel CASK mutations through the exclusive consideration of genetic information and population-based data remains a challenge. Using whole exome sequencing, we identified four novel CASK mutations in individuals with syndromic MC. To understand the functional consequences of the different point mutations on the development of MC and cerebellar defects, we established a transient loss-of-function zebrafish model, and demonstrate recapitulation of relevant neuroanatomical phenotypes. Furthermore, we utilized in vivo complementation studies to demonstrate that the three point mutations confer a loss-of-function effect. This work endorses zebrafish as a tractable model to rapidly assess the effect of novel CASK variants on brain development.

journal_name

Hum Mutat

journal_title

Human mutation

authors

Cristofoli F,Devriendt K,Davis EE,Van Esch H,Vermeesch JR

doi

10.1002/humu.23536

subject

Has Abstract

pub_date

2018-07-01 00:00:00

pages

993-1001

issue

7

eissn

1059-7794

issn

1098-1004

journal_volume

39

pub_type

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