Department of Medical Genetics, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
Department of Clinical Genetics and Genomics, University Hospital Fundacion Jimenez Diaz, Health Research Institute Fundacion Jimenez Diaz (IIS-FJD, UAM), Madrid, Spain; CIBERER (Biomedical Research Network Centre for Rare Diseases), ISCIII, Madrid, Spain.
Exp Eye Res. 2021 Oct;211:108714. doi: 10.1016/j.exer.2021.108714. Epub 2021 Aug 11.
Mutations in Retinitis pigmentosa GTPase regulator gene (RPGR) are the most common cause of X-linked retinitis pigmentosa (RP). Almost 60% of disease-causing RPGR mutations are located in ORF-15 region which cannot be detected by Next Generation Sequencing (NGS) due to the existence of highly repetitive regions. An Iranian family with a priori diagnosis of autosomal dominant RP was studied by Sanger sequencing of ORF15 of RPGR gene after an inconclusive NGS result. A frameshift two-base-pair deletion (c.2323_2324del, p.Arg775Glufs*59) in this region was segregating in both affected hemizygous males and affected homozygous females. To our knowledge, this is the first example of homozygous females for RPGR-ORF15 mutations.
RPGR 基因突变是 X 连锁性视网膜炎色素变性（RP）最常见的原因。近 60%的致病变异位于 ORF-15 区，由于高度重复区域的存在，无法通过下一代测序（NGS）检测到。对先证者为常染色体显性遗传 RP 的伊朗家系进行了研究，在 NGS 结果不确定后，对 RPGR 基因的 ORF15 进行了 Sanger 测序。该区域的移码双碱基缺失（c.2323_2324del，p.Arg775Glufs*59）在受累半合子男性和受累纯合子女性中均有遗传。据我们所知，这是 RPGR-ORF15 突变纯合子女性的首例报道。
