scholarly journals MFSD8 Gene

2020 ◽  
Author(s):  
Keyword(s):  
Mfsd8 Gene

scholarly journals Novel MFSD8 Variants in a Chinese Family with Nonsyndromic Macular Dystrophy

2021 ◽  
Vol 2021 ◽  
pp. 1-5
Author(s):  
Qin Xiang ◽  
Yanna Cao ◽  
Hongbo Xu ◽  
Zhijian Yang ◽  
Liang Tang ◽  
...  
Keyword(s):  
Family Members ◽  
Major Facilitator Superfamily ◽  
Chinese Family ◽  
Macular Dystrophy ◽  
Compound Heterozygous ◽  
The Novel ◽  
Pathogenic Variants ◽  
Compound Heterozygous Variants ◽  
Major Facilitator ◽  
Mfsd8 Gene

Purpose. To identify the molecular etiology of a Chinese family with nonsyndromic macular dystrophy. Methods. Ophthalmic examinations were performed, and genomic DNA was extracted from available family members. Whole exome sequencing of two members (the proband and her unaffected mother) and Sanger sequencing in available family members were performed to screen potential pathogenic variants. Results. Novel compound heterozygous variants, c.1066C>T (p.Pro356Ser) and c.1102+2T>C, in the major facilitator superfamily domain containing 8 gene (MFSD8) were suspected to be involved in this family’s macular dystrophy phenotype. The novel c.1066C>T variant in the MFSD8 gene probably resulted in substitution of serine for proline at the 356th residue and was predicted to be “uncertain significance” through in silico analyses. The novel c.1102+2T>C variant in the MFSD8 gene was likely to affect the splicing form and predicted to be “pathogenic.” Conclusion. The novel compound heterozygous variants, c.1066C>T (p.Pro356Ser) and c.1102+2T>C, in the MFSD8 gene are likely responsible for the isolated macular dystrophy phenotype in this family. This study enlarged the MFSD8 gene mutant spectrum and might provide more accurate genetic counseling for this family.

A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis

Neurogenetics ◽  
2008 ◽  
Vol 10 (1) ◽  
pp. 73-77 ◽  
Author(s):  
E. Stogmann ◽  
S. El Tawil ◽  
J. Wagenstaller ◽  
A. Gaber ◽  
S. Edris ◽  
...  
Keyword(s):  
Neuronal Ceroid Lipofuscinosis ◽  
Novel Mutation ◽  
Infantile Neuronal Ceroid Lipofuscinosis ◽  
Ceroid Lipofuscinosis ◽  
Mfsd8 Gene

MFSD8 gene mutations; evidence for phenotypic heterogeneity

2019 ◽  
Vol 40 (2) ◽  
pp. 141-145 ◽  
Author(s):  
Davood Zare-Abdollahi ◽  
Ata Bushehri ◽  
Afagh Alavi ◽  
Alireza Dehghani ◽  
Mohammadreza Mousavi-Mirkala ◽  
...  
Keyword(s):  
Gene Mutations ◽  
Phenotypic Heterogeneity ◽  
Mfsd8 Gene

Clinico-pathological manifestations of variant late infantile neuronal ceroid lipofuscinosis (vLINCL) caused by a novel mutation in MFSD8 gene

2014 ◽  
Vol 57 (11-12) ◽  
pp. 607-612 ◽  
Author(s):  
Hanna Mandel ◽  
Ksenya Cohen Katsanelson ◽  
Morad Khayat ◽  
Ilana Chervinsky ◽  
Eugene Vladovski ◽  
...  
Keyword(s):  
Neuronal Ceroid Lipofuscinosis ◽  
Novel Mutation ◽  
Infantile Neuronal Ceroid Lipofuscinosis ◽  
Ceroid Lipofuscinosis ◽  
Mfsd8 Gene

scholarly journals AAV9/MFSD8 gene therapy is effective in preclinical models of neuronal ceroid lipofuscinosis type 7 disease

2022 ◽  
Author(s):  
Xin Chen ◽  
Thomas Dong ◽  
Yuhui Hu ◽  
Frances C. Shaffo ◽  
Nandkishore R. Belur ◽  
...  
Keyword(s):  
Gene Therapy ◽  
Neuronal Ceroid Lipofuscinosis ◽  
Preclinical Models ◽  
Ceroid Lipofuscinosis ◽  
Mfsd8 Gene
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