Novel mutations in the BEST1 gene cause distinct retinopathies in two Chinese families

• Published in: International journal of ophthalmology 2022-02, Vol.15 (2), p.205-212
• Main Authors: Zhu, Zhi-Hong, Jin, Xin, Zhang, Yi-Xin, Wang, Rui, Wu, Tong, Liu, Wei, Chen, Ze-Hua, Xie, Hai-Nan, Chen, Lan-Lan, Liu, Zi-Hao, Huang, Hou-Bin
• Format: Article
• Language: English
• Subjects: Basic Research; best vitelliform macular dystrophy; best1 gene; gene mutation; retinitis pigmentosa
• ISSN: 2222-3959; 2227-4898
• DOI: 10.18240/ijo.2022.02.03

To describe the clinical heterogeneity of patients with novel mutations in . 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. A novel 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 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. Two novel mutations in the gene in two unrelated families with distinct phenotypes and 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 mutation.