Xiang Qin, Cao Yanna, Xu Hongbo, Yang Zhijian, Tang Liang, Xiang Ju, Li Jianming, Deng Hao, Yuan Lamei
Department of Basic Biology, Changsha Medical University, Changsha, China.
Center for Neuroscience and Behavior, Changsha Medical University, Changsha, China.
J Ophthalmol. 2021 Aug 17;2021:6684045. doi: 10.1155/2021/6684045. eCollection 2021.
To identify the molecular etiology of a Chinese family with nonsyndromic macular dystrophy.
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.
Novel compound heterozygous variants, c.1066C>T (p.Pro356Ser) and c.1102+2T>C, in the major facilitator superfamily domain containing 8 gene () were suspected to be involved in this family's macular dystrophy phenotype. The novel c.1066C>T variant in the gene probably resulted in substitution of serine for proline at the 356th residue and was predicted to be "uncertain significance" through analyses. The novel c.1102+2T>C variant in the gene was likely to affect the splicing form and predicted to be "pathogenic."
The novel compound heterozygous variants, c.1066C>T (p.Pro356Ser) and c.1102+2T>C, in the gene are likely responsible for the isolated macular dystrophy phenotype in this family. This study enlarged the gene mutant spectrum and might provide more accurate genetic counseling for this family.
确定一个患有非综合征性黄斑营养不良的中国家系的分子病因。
进行眼科检查，并从家系中可获取样本的成员提取基因组DNA。对两名成员（先证者及其未患病的母亲）进行全外显子组测序，并对家系中可获取样本的成员进行桑格测序，以筛选潜在的致病变异。
主要易化子超家族结构域包含8基因（）中的新型复合杂合变异c.1066C>T（p.Pro356Ser）和c.1102+2T>C被怀疑与该家系的黄斑营养不良表型有关。该基因中的新型c.1066C>T变异可能导致第356位残基的脯氨酸被丝氨酸取代，经分析预测为“意义不明确”。该基因中的新型c.1102+2T>C变异可能影响剪接形式，预测为“致病的”。
该基因中的新型复合杂合变异c.1066C>T（p.Pro356Ser）和c.1102+2T>C可能是导致该家系孤立性黄斑营养不良表型的原因。本研究扩大了该基因的突变谱，可能为该家系提供更准确的遗传咨询。
