Rare variants in dynein heavy chain genes in two individuals with situs inversus and developmental dyslexia: a case report.

ABSTRACT:

Background

Developmental dyslexia (DD) is a neurodevelopmental learning disorder with high heritability. A number of candidate susceptibility genes have been identified, some of which are linked to the function of the cilium, an organelle regulating left-right asymmetry development in the embryo. Furthermore, it has been suggested that disrupted left-right asymmetry of the brain may play a role in neurodevelopmental disorders such as DD. However, it is unknown whether there is a common genetic cause to DD and laterality defects or ciliopathies.

Case presentation

Here, we studied two individuals with co-occurring situs inversus (SI) and DD using whole genome sequencing to identify genetic variants of importance for DD and SI. Individual 1 had primary ciliary dyskinesia (PCD),

SUBMITTER: Bieder A 

PROVIDER: S-EPMC7193346 | biostudies-literature | 2020 May

REPOSITORIES: biostudies-literature