Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

ABSTRACT:

Background

Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterised by hypotonia, ataxia, cognitive impairment, abnormal eye movements, respiratory control disturbances and a distinctive mid-hindbrain malformation. JS demonstrates substantial phenotypic variability and genetic heterogeneity. This study provides a comprehensive view of the current genetic basis, phenotypic range and gene-phenotype associations in JS.

Methods

We sequenced 27 JS-associated genes in 440 affected individuals (375 families) from a cohort of 532 individuals (440 families) with JS, using molecular inversion probe-based targeted capture and next-generation sequencing. Variant pathogenicity was defined using the Combined Annotation Dependent Depletion algorithm with an optimised

SUBMITTER: Bachmann-Gagescu R 

PROVIDER: S-EPMC5082428 | biostudies-literature | 2015 Aug

REPOSITORIES: biostudies-literature