A 4.6 Mb Inversion Leading to PCDH15-LINC00844 and BICC1-PCDH15 Fusion Transcripts as a New Pathogenic Mechanism Implicated in Usher Syndrome Type 1

Usher type 1 syndrome is a rare autosomal recessive disorder involving congenital severe-to-profound hearing loss, development of vision impairment in the first decade, and severe balance difficulties. The PCDH15 gene, one of the five genes implicated in this disease, is involved in 8–20% of cases....

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Vydáno v:Front Genet
Hlavní autoři: Vaché, Christel, Puechberty, Jacques, Faugère, Valérie, Darmaisin, Floriane, Liquori, Alessandro, Baux, David, Blanchet, Catherine, Garcia-Garcia, Gema, Meunier, Isabelle, Pellestor, Franck, Koenig, Michel, Roux, Anne-Françoise
Médium: Artigo
Jazyk:Inglês
Vydáno: Frontiers Media S.A. 2020
Témata:
Genetics
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7343966/
https://ncbi.nlm.nih.gov/pubmed/32714370
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2020.00623
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