Unexpected Inheritance Patterns in a Large Cohort of Patients with a Suspected Ciliopathy.

ABSTRACT: Ciliopathies are rare genetic disorders caused by dysfunction of the primary or motile cilia. Their mode of inheritance is mostly autosomal recessive with biallelic pathogenic variants inherited from the parents. However, exceptions exist such as uniparental disomy (UPD) or the appearance of a de novo pathogenic variant in trans of an inherited pathogenic variant. These two genetic mechanisms are expected to be extremely rare, and few data are available in the literature, especially regarding ciliopathies. In this study, we investigated 940 individuals (812 families) with a suspected ciliopathy by Sanger sequencing, high-throughput sequencing and/or SNP array analysis and performed a literature review of UPD and de novo variants in ciliopathies. In a large cohort of 62

SUBMITTER: Gouronc A 

PROVIDER: S-EPMC11918889 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature