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

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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Bibliografiska uppgifter
Huvudupphovsmän: Christel Vaché, Jacques Puechberty, Valérie Faugère, Floriane Darmaisin, Alessandro Liquori, David Baux, Catherine Blanchet, Gema Garcia-Garcia, Isabelle Meunier, Franck Pellestor, Michel Koenig, Anne-Françoise Roux
Materialtyp: Artikel
Språk:English
Publicerad: Frontiers Media S.A. 2020-07-01
Serie:Frontiers in Genetics
Ämnen:
Usher syndrome
PCDH15
paracentric inversion
fusion transcripts
long-read sequencing
Länkar:https://www.frontiersin.org/article/10.3389/fgene.2020.00623/full

Internet

https://www.frontiersin.org/article/10.3389/fgene.2020.00623/full

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