Mar 31, 2020

Rare variants in dynein heavy chain genes in two individuals with situs inversus and developmental dyslexia

BioRxiv : the Preprint Server for Biology
Allain-Thibeault FERHATIsabel Tapia-Paez

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. Methods: Here, we studied two individuals with co-occurring situs inversus (SI) and DD using whole genome sequencing to identify single nucleotide variants or copy number variations of importance for DD and SI. Results: Individual 1 had primary ciliary dyskinesia (PCD), a rare, autosomal recessive disorder with oto-sino-pulmonary phenotype and SI. We identified two rare nonsynonymous variants in the dynein axonemal heavy chain 5 gene (DNAH5): c.7502G>C;p.(R2501P), a previously reported variant predicted to be damaging and c.12043T>G;p.(Y4015D), a novel variant predicted to be damaging. Ultrastructural analysis of the cilia revealed a lack of outer dynein arms and normal inner dynein arms. MRI of the brain revealed no significant abnormalities. Individual 2 had non-syndromic SI and DD. In indiv...Continue Reading

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Standard of Care
Study
Size
Biopsy of Bone, Scapula, Clavicle, and Thorax [Ribs and Sternum]
Vision
Caged molecule
Analysis
Mouse Model
Round Shape
Laboratory mice

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