Long-Read Sequencing to Unravel Complex Structural Variants of CEP78 Leading to Cone-Rod Dystrophy and Hearing Loss

Long-Read Sequencing to Unravel Complex Structural Variants of CEP78 Leading to Cone-Rod Dystrophy and Hearing Loss

Inactivating variants as well as a missense variant in the centrosomal CEP78 gene have been identified in autosomal recessive cone-rod dystrophy with hearing loss (CRDHL), a rare syndromic inherited retinal disease distinct from Usher syndrome. Apart from this, a complex structural variant (SV) impl...

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Bibliographic Details
Main Authors: Giulia Ascari, Nanna D. Rendtorff, Marieke De Bruyne, Julie De Zaeytijd, Michel Van Lint, Miriam Bauwens, Mattias Van Heetvelde, Gavin Arno, Julie Jacob, David Creytens, Jo Van Dorpe, Thalia Van Laethem, Toon Rosseel, Tim De Pooter, Peter De Rijk, Wouter De Coster, Björn Menten, Alfredo Dueñas Rey, Mojca Strazisar, Mette Bertelsen, Lisbeth Tranebjaerg, Elfride De Baere
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-04-01
Series:Frontiers in Cell and Developmental Biology
Subjects:
CEP78
inherited retinal disease
cone-rod dystrophy with hearing loss
long-read sequencing
structural variants
single-cell gene expression analysis
Online Access:https://www.frontiersin.org/articles/10.3389/fcell.2021.664317/full

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https://www.frontiersin.org/articles/10.3389/fcell.2021.664317/full

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