Differential Domain Distribution of gnomAD- and Disease-Linked Connexin Missense Variants.

ABSTRACT: Twenty-one human genes encode connexins, a family of homologous proteins making gap junction (GJ) channels, which mediate direct intercellular communication to synchronize tissue/organ activities. Genetic variants in more than half of the connexin genes are associated with dozens of different Mendelian inherited diseases. With rapid advances in DNA sequencing technology, more variants are being identified not only in families and individuals with diseases but also in people in the general population without any apparent linkage to Mendelian inherited diseases. Nevertheless, it remains challenging to classify the pathogenicity of a newly identified connexin variant. Here, we analyzed the disease- and Genome Aggregation Database (gnomAD, as a proxy of the general population)-linked variants

SUBMITTER: Bai D 

PROVIDER: S-EPMC8346055 | biostudies-literature | 2021 Jul

REPOSITORIES: biostudies-literature