Genetic and clinical characteristics of ZNF408-related familial exudative vitreoretinopathy.

Xueying Tao, Liying He, Chao Cen, Ya Liu, Qi Li, Liyan Gong, Wenke Zhou, Chunmei Li

The Journal of international medical research 2023 Sep

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To analyze the clinical and genetic characteristics of zinc finger protein 408 (ZNF408)-related familial exudative vitreoretinopathy (FEVR) in a Chinese cohort. Ninety families from Chongqing and 16 families from Xinjiang were selected according to fundus lesion characteristics. Peripheral venous blood was collected from patients and their families; genomic DNA was extracted for whole exome sequencing. Relationships between genotype and phenotype in patients with ZNF408-related FEVR were analyzed. ZNF408 variants were detected in three patients (2.83%, 3/106). ZNF408 variants in these three probands were all missense mutations at novel sites. One proband had a ZNF408 and LRP5 double-gene variant, and two probands had ZNF408 single-gene variants. Patients with double-gene variants did not display more severe clinical manifestations. This study expands the spectrum of known ZNF408 variants and confirms that ZNF408 variants can cause FEVR. Most variants detected in this study have not been reported in the literature and are suspected pathogenic variants of FEVR. In patients with FEVR, phenotype and genotype do not necessarily display a direct one-to-one relationship.

Citation

Xueying Tao, Liying He, Chao Cen, Ya Liu, Qi Li, Liyan Gong, Wenke Zhou, Chunmei Li. Genetic and clinical characteristics of ZNF408-related familial exudative vitreoretinopathy. The Journal of international medical research. 2023 Sep;51(9):3000605231194518