Robles Bocanegra Andrea, Tato Javier, Molina Thurin Leonardo J, Izquierdo Natalio, Oliver Armando L
Ophthalmology, San Juan Bautista School of Medicine, Caguas, PRI.
Ophthalmology, Ponce Health Sciences University, Ponce, PRI.
Cureus. 2023 Feb 13;15(2):e34933. doi: 10.7759/cureus.34933. eCollection 2023 Feb.
Mutations in the phosphodiesterase 6B gene are a rare cause of autosomal recessive retinitis pigmentosa (arRP). We report on a non-consanguineous family with a pseudodominant inheritance of RP due to mutations. We conducted a chart review of four members of a Puerto Rican family who underwent a comprehensive ophthalmic evaluation by at least one of the authors. The mutational screening was done using a genotyping microarray provided by Invitae Corporation, using next-generation sequencing (NGS) technology. Genomic DNA obtained from saliva samples is enriched for targeted regions using a hybridization-based protocol and sequenced using Illumina technology. A descriptive analysis was done. Patient 1A had a normal ophthalmic examination and a heterozygous pathogenic variant in the gene c.1540del PLeu514Trpfs61. Patients 1B, 2A, and 2B had mid-peripheral retinitis pigmentosa, concentric visual field ring scotomata in both eyes (OU), extinguished electroretinogram (ERG), and homozygous pathogenic variants in the gene c.1540del PLeu514Trpfs61. Even though mutations in the gene usually lead to arRP, they may be inherited in a pseudodominant pattern in geographically isolated populations. Genotyping studies in patients with RP are warranted to classify inheritance mode correctly.
磷酸二酯酶6B基因的突变是常染色体隐性遗传性视网膜色素变性（arRP）的罕见病因。我们报告了一个非近亲家庭，该家庭因突变导致视网膜色素变性呈假显性遗传。我们对一个波多黎各家庭的四名成员进行了病历回顾，这四名成员至少由其中一位作者进行了全面的眼科评估。使用Invitae公司提供的基因分型微阵列，采用下一代测序（NGS）技术进行突变筛查。从唾液样本中获取的基因组DNA使用基于杂交的方案富集目标区域，并使用Illumina技术进行测序。进行了描述性分析。患者1A眼科检查正常，基因c.1540del存在杂合致病性变异，导致Leu514Trpfs61。患者1B、2A和2B患有中周边视网膜色素变性，双眼（OU）有同心视野环形暗点，视网膜电图（ERG）熄灭，基因c.1540del存在纯合致病性变异，导致Leu514Trpfs61。尽管该基因的突变通常导致arRP，但在地理上隔离的人群中可能以假显性模式遗传。对视网膜色素变性患者进行基因分型研究对于正确分类遗传模式是必要的。
