Novel MFSD8 Variants in a Chinese Family with Nonsyndromic Macular Dystrophy

Qin Xiang; Yanna Cao; Hongbo Xu; Zhijian Yang; Liang Tang; Ju Xiang; Jianming Li; Hao Deng; Lamei Yuan

doi:10.1155/2021/6684045

Novel MFSD8 Variants in a Chinese Family with Nonsyndromic Macular Dystrophy

J Ophthalmol. 2021 Aug 17:2021:6684045. doi: 10.1155/2021/6684045. eCollection 2021.

Authors

Qin Xiang^{1

2

3}, Yanna Cao⁴, Hongbo Xu⁵, Zhijian Yang⁵, Liang Tang^{2

3}, Ju Xiang^{2

3}, Jianming Li^{1

6}, Hao Deng⁵, Lamei Yuan⁵

Affiliations

¹ Department of Basic Biology, Changsha Medical University, Changsha, China.
² Center for Neuroscience and Behavior, Changsha Medical University, Changsha, China.
³ Academics Working Station, Changsha Medical University, Changsha, China.
⁴ Department of Ophthalmology, The Third Xiangya Hospital, Central South University, Changsha, China.
⁵ Center for Experimental Medicine, The Third Xiangya Hospital, Central South University, Changsha, China.
⁶ Department of Rehabilitation, Xiangya Boai Rehabilitation Hospital, Changsha, China.

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 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.