English (United Kingdom)

https://curated-unify.zendy.io/wp-json/zendy-region/v1/featured_content/oa?rat=en

https://curated-unify.zendy.io/wp-json/zendy-region/v1/highlighted_journal/

Global: Zendy Plus annual

Presents the access of premium content as premium feature

Premium Content

Presents the keyphrase highlighting as premium feature

Keyphrase Highlighting

Presents the summarisation as premium feature

Summarisation

Insights

Presents the pdf analysis as premium feature

PDF Analysis

Presents the zaia usage as premium feature

ZAIA

Global: Zendy Plus monthly

Global: Zendy Tools annual

Global: Zendy Tools monthly

Global: Zendy Free Plan

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.

Novel MFSD8 Variants in a Chinese Family with Nonsyndromic Macular Dystrophy