Contribution of Whole-Genome Sequencing and Transcript Analysis to Decipher Retinal Diseases Associated with MFSD8 Variants.

doi:10.3390/ijms23084294

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Article

Contribution of Whole-Genome Sequencing and Transcript Analysis to Decipher Retinal Diseases Associated with MFSD8 Variants.

International journal of molecular sciences - 13 Apr 2022

Poncet Anaïs F, Grunewald Olivier, Vaclavik Veronika, Meunier Isabelle, Drumare Isabelle, Pelletier Valérie, Bocquet Béatrice, Todorova Margarita G, Le Moing Anne-Gaëlle, Devos Aurore, Schorderet Daniel F, Jobic Florence, Defoort-Dhellemmes Sabine, Dollfus Hélène, Smirnov Vasily M, Dhaenens Claire-Marie

Abstract excerpt

Biallelic gene defects in MFSD8 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 MFSD8, issued from a French cohort with inherited retinal degeneration, and two additional patients retrieved from a Swiss cohort. Next-generation...

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PMID: 35457110
DOI: 10.3390/ijms23084294
PMCID: PMC9032189

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