Homozygous females for a X-linked RPGR-ORF15 mutation in an Iranian family with retinitis pigmentosa
Copyright policy )Homozygous females for a X-linked RPGR-ORF15 mutation in an Iranian family with retinitis pigmentosa
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.
- Shahid Sadoughi University of Medical Sciences and Health Services Iran (Islamic Republic of)
- Diabetes Research Center Iran (Islamic Republic of)
- Tehran University of Medical Sciences Iran (Islamic Republic of)
- Endocrinology and Metabolism Clinical Sciences Institute Iran (Islamic Republic of)
- Hospital Universitario Fundación Jiménez Díaz Spain
Male, DNA Mutational Analysis, Homozygote, High-Throughput Nucleotide Sequencing, Genetic Diseases, X-Linked, Exons, Iran, Pedigree, Consanguinity, Open Reading Frames, Asian People, Genes, X-Linked, Mutation, Humans, Female, Child, Eye Proteins, Genetic Association Studies, Retinitis Pigmentosa
Male, DNA Mutational Analysis, Homozygote, High-Throughput Nucleotide Sequencing, Genetic Diseases, X-Linked, Exons, Iran, Pedigree, Consanguinity, Open Reading Frames, Asian People, Genes, X-Linked, Mutation, Humans, Female, Child, Eye Proteins, Genetic Association Studies, Retinitis Pigmentosa
citations This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).3 popularity This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.Top 10% influence This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).Average impulse This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.Average
Citations provided by BIP!Popularity provided by BIP!