A Novel, Apparently Silent Variant in <i>MFSD8</i> Causes Neuronal Ceroid Lipofuscinosis with Marked Intrafamilial Variability

A Novel, Apparently Silent Variant in <i>MFSD8</i> Causes Neuronal Ceroid Lipofuscinosis with Marked Intrafamilial Variability

Variants in <i>MFSD8</i> can cause neuronal ceroid lipofuscinoses (NCLs) as well as nonsyndromic retinopathy. The mutation spectrum includes mainly missense and stop variants, but splice sites and frameshift variants have also been reported. To date, apparently synonymous substitutions h...

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Bibliographic Details
Main Authors: Milda Reith, Lena Zeltner, Karin Schäferhoff, Dennis Witt, Theresia Zuleger, Tobias B. Haack, Antje Bornemann, Michael Alber, Susanne Ruf, Ludger Schoels, Katarina Stingl, Nicole Weisschuh
Format: Article
Language:English
Published: MDPI AG 2022-02-01
Series:International Journal of Molecular Sciences
Subjects:
CLN7
<i>MFSD8</i>
synonymous substitution
mis-splicing
exon skipping
functional studies
Online Access:https://www.mdpi.com/1422-0067/23/4/2271

Internet

https://www.mdpi.com/1422-0067/23/4/2271

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