Dear Editor,I am Dr.Satoru Kase,from the Department of Ophthalmology,Faculty of Medicine and Graduate School of Medicine,Hokkaido University.I write to present the case of clinicopathological findings in Axenfeld-Rieg...Dear Editor,I am Dr.Satoru Kase,from the Department of Ophthalmology,Faculty of Medicine and Graduate School of Medicine,Hokkaido University.I write to present the case of clinicopathological findings in Axenfeld-Rieger syndrome(ARS).展开更多
AIM： To describe a Chinese family affected by a severe form of Axenfeld-Rieger syndrome （ARS） and characterize the molecular defect in PITX2 in the family. METHODS： Patients presented with typical ARS from a Chin...AIM： To describe a Chinese family affected by a severe form of Axenfeld-Rieger syndrome （ARS） and characterize the molecular defect in PITX2 in the family. METHODS： Patients presented with typical ARS from a Chinese family were investigated. We performed genome- wide linkage scan and exome sequencing to identify the pathogenic mutations, Candidate mutations were verified for co-segregation in the whole pedigree using Sanger sequencing, Real-time polymerase chain reaction （RT- PCR） and Western blotting were performed to verify the expression of the pathogenic gene. RESULTS： Genome-wide linkage and exome sequencing analyses showed PITX2 as the disease candidate gene. A〉G substitution at position -11 of 3＇ss of exon 5 （IVS5- 11A〉G） that co-segregated with the disease phenotype was discovered in the family. The PITX2 messenger ribonucleic acid and protein levels were about 50% lower in patients with ARS than in unaffected family members in the family, CONCLUSION： Our findings implicate the first intronic mutation of the PITX2 gene in the pathogenesis of a severe form of ARS in a Chinese family. This study highlights the importance of a systematic search for intronic mutation in ARS cases for which no mutations in the exons of PITX2 have been found.展开更多
Purpose: To discuss the clinic features of Rieger syndrome, the reasons of making wrong diagnosis , the way of treatment, and the research progress of its molecular characterization and gene mapping of this syndrome.M...Purpose: To discuss the clinic features of Rieger syndrome, the reasons of making wrong diagnosis , the way of treatment, and the research progress of its molecular characterization and gene mapping of this syndrome.Methods: Two cases of Rieger syndrome which affected a patient and his daughter were studied. Multiple clinical examinations including photography of anterior segment, go-nioscopy and fundus, Humphrey perimetry, A-scan ultrasonography, multiple tonometry in a day and chromosome examination were performed. Most importantly, ultrasonic biomicro-scope(UBM) was first used to show the abnormalities of anterior segment in this syndrome. Results: Gonioscopic examination revealed many mesoderm tissues remained and some parts of the iris adhered to cornea . In addition to hypoplasia of cornea, iris and chamber angle, UBM showed that there was also hypoplasia of ciliary body. The result of the chomosome examination indicated normal.Conclusions: Rieger syndrome is an autosomal-dominated disorder with展开更多
文摘Dear Editor,I am Dr.Satoru Kase,from the Department of Ophthalmology,Faculty of Medicine and Graduate School of Medicine,Hokkaido University.I write to present the case of clinicopathological findings in Axenfeld-Rieger syndrome(ARS).
基金Supported by China Postdoctoral Science Foundation Funded Project(No.2017M612211)the National Natural Science Foundation of China(No.81300742+2 种基金No.81600721)the Shandong Province Medical and Health Technology Development Project(No.2016WS0265)the Science and Technology Plan of Qingdao(No.15-9-1-35-jch)
文摘AIM： To describe a Chinese family affected by a severe form of Axenfeld-Rieger syndrome （ARS） and characterize the molecular defect in PITX2 in the family. METHODS： Patients presented with typical ARS from a Chinese family were investigated. We performed genome- wide linkage scan and exome sequencing to identify the pathogenic mutations, Candidate mutations were verified for co-segregation in the whole pedigree using Sanger sequencing, Real-time polymerase chain reaction （RT- PCR） and Western blotting were performed to verify the expression of the pathogenic gene. RESULTS： Genome-wide linkage and exome sequencing analyses showed PITX2 as the disease candidate gene. A〉G substitution at position -11 of 3＇ss of exon 5 （IVS5- 11A〉G） that co-segregated with the disease phenotype was discovered in the family. The PITX2 messenger ribonucleic acid and protein levels were about 50% lower in patients with ARS than in unaffected family members in the family, CONCLUSION： Our findings implicate the first intronic mutation of the PITX2 gene in the pathogenesis of a severe form of ARS in a Chinese family. This study highlights the importance of a systematic search for intronic mutation in ARS cases for which no mutations in the exons of PITX2 have been found.
文摘Purpose: To discuss the clinic features of Rieger syndrome, the reasons of making wrong diagnosis , the way of treatment, and the research progress of its molecular characterization and gene mapping of this syndrome.Methods: Two cases of Rieger syndrome which affected a patient and his daughter were studied. Multiple clinical examinations including photography of anterior segment, go-nioscopy and fundus, Humphrey perimetry, A-scan ultrasonography, multiple tonometry in a day and chromosome examination were performed. Most importantly, ultrasonic biomicro-scope(UBM) was first used to show the abnormalities of anterior segment in this syndrome. Results: Gonioscopic examination revealed many mesoderm tissues remained and some parts of the iris adhered to cornea . In addition to hypoplasia of cornea, iris and chamber angle, UBM showed that there was also hypoplasia of ciliary body. The result of the chomosome examination indicated normal.Conclusions: Rieger syndrome is an autosomal-dominated disorder with
