Article
Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy.
Clinical genetics - 1 Mar 2020
Bauwens Miriam, Storch Stephan, Weisschuh Nicole, Ceuterick-de Groote Chantal, De Rycke Riet, Guillemyn Brecht, De Jaegere Sarah, Coppieters Frauke, Van Coster Rudy, Leroy Bart P, De Baere Elfride
Abstract excerpt
Biallelic MFSD8 variants are an established cause of severe late-infantile subtype of neuronal ceroid lipofuscinosis (v-LINCL), a severe lysosomal storage disorder, but have also been associated with nonsyndromic adult-onset maculopathy. Here, we functionally characterized two novel MFSD8 variants found in a child with juvenile isolated maculopathy, in order to establish a refined prognosis. ABCA4 locus...
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