Contribution of Whole-Genome Sequencing and Transcript Analysis to Decipher Retinal Diseases Associated with <i>MFSD8</i> Variants

Contribution of Whole-Genome Sequencing and Transcript Analysis to Decipher Retinal Diseases Associated with <i>MFSD8</i> Variants

Biallelic gene defects in <i>MFSD8</i> are not only a cause of the late-infantile form of neuronal ceroid lipofuscinosis, but also of rare isolated retinal degeneration. We report clinical and genetic data of seven patients compound heterozygous or homozygous for variants in <i>MFS...

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Bibliographic Details
Main Authors: Anaïs F. Poncet, Olivier Grunewald, Veronika Vaclavik, Isabelle Meunier, Isabelle Drumare, Valérie Pelletier, Béatrice Bocquet, Margarita G. Todorova, Anne-Gaëlle Le Moing, Aurore Devos, Daniel F. Schorderet, Florence Jobic, Sabine Defoort-Dhellemmes, Hélène Dollfus, Vasily M. Smirnov, Claire-Marie Dhaenens
Format: Article
Language:English
Published: MDPI AG 2022-04-01
Series:International Journal of Molecular Sciences
Subjects:
<i>MFSD8</i> gene
isolated macular dystrophy
neuronal ceroid lipofuscinosis
deep intronic variant
transcript analysis
Online Access:https://www.mdpi.com/1422-0067/23/8/4294

Internet

https://www.mdpi.com/1422-0067/23/8/4294

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