Novel mutations in the BEST1 gene cause distinct retinopathies in two Chinese families |
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Authors: | 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 |
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Affiliation: | Department of Ophthalmology, Hainan Hospital of Chinese PLA General Hospital, Sanya 572013, Hainan Province, China,Department of Ophthalmology, Chinese PLA General Hospital, Beijing 100853, China,Department of Ophthalmology, the PLA Rocket Force Characteristic Medical Center, Beijing 100088, China,Department of Ophthalmology, Hainan Hospital of Chinese PLA General Hospital, Sanya 572013, Hainan Province, China,Department of Ophthalmology, Hainan Hospital of Chinese PLA General Hospital, Sanya 572013, Hainan Province, China,Department of Ophthalmology, Hainan Hospital of Chinese PLA General Hospital, Sanya 572013, Hainan Province, China,Department of Ophthalmology, Hainan Hospital of Chinese PLA General Hospital, Sanya 572013, Hainan Province, China,Department of Ophthalmology, Hainan Hospital of Chinese PLA General Hospital, Sanya 572013, Hainan Province, China,Department of Ophthalmology, Hainan Hospital of Chinese PLA General Hospital, Sanya 572013, Hainan Province, China,Department of Ophthalmology, Dongzhimen Hospital, Beijing University of Chinese Medicine, Beijing 100700, China and Department of Ophthalmology, Hainan Hospital of Chinese PLA General Hospital, Sanya 572013, Hainan Province, China; Department of Ophthalmology, Chinese PLA General Hospital, Beijing 100853, China; The Second School of Clinical Medicine, Southern Medical University, Guangzhou 510515, Guangdong Province, China |
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Abstract: | 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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Keywords: | BEST1 gene best vitelliform macular dystrophy retinitis pigmentosa gene mutation |
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