Novel MFSD8 Variants in a Chinese Family with Nonsyndromic Macular Dystrophy.

ABSTRACT:

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 predict

SUBMITTER: Xiang Q 

PROVIDER: S-EPMC8387190 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature