Zhi-Hong Zhu, Xin Jin, Yi-Xin Zhang, Rui Wang, Tong Wu, Wei Liu, Ze-Hua Chen, Hai-Nan Xie, Lan-Lan Chen, Zi-Hao Liu, Hou-Bin Huang | International Journal Ophthalmology | 2022 Feb 18 | 15(2) | pages 205–212 | doi:10.18240/ijo.2022.02.03
AIM
To describe the clinical heterogeneity of patients with novel mutations in BEST1.
METHODS
All the members in the two Chinese families underwent detailed clinical evaluations including best-corrected visual acuity, slit-lamp examination, applanation tonometry, and dilated fundus examination. Fundus autofluorescence, fundus fluorescein angiography, spectral-domain optical coherence tomography, electrooculography, and electroretinogram were also performed. Genomic DNA was extracted from venous blood for all the participants. The targeted next-generation sequencing of inherited retinal disease-associated genes was conducted to identify the causative mutation.
RESULTS
A novel BEST1 missense mutation c.41T>C (p.Leu14Ser) was identified in Family 1. It was co-segregated with the phenotype of best vitelliform macular dystrophy (BVMD) and bioinformatics analysis confirmed it was harmful. Another novel BEST1 frameshift mutation c.345_346insGGCAAGGACG (p.Glu119Glyfs*116) and a novel USH2A missense mutation c.12560G>A, p.Arg4187His were identified in family 2 with retinitis pigmentosa (RP), which might interact and lead to the phenotype of RP.
CONCLUSION
Two novel mutations in the BEST1 gene in two unrelated families with distinct phenotypes and BEST1 mutation accompanied with USH2A mutation would result in RP, which could be enormously helpful in understanding the pathogenesis of the inherited retinal disease caused by a BEST1 mutation.
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