ABSTRACT
OBJECTIVE@#To detect pathogenic gene variants in two Chinese families with cone-rod dystrophy(CORD).@*METHODS@#After the informed consent and comprehensive ophthalmic examinations for the patients, 3 mL peripheral blood was taken from the patients' blood vessel and DNA was extracted. The DNA was sequenced by whole-exome sequencing technology and variants were analyzed.@*RESULTS@#Two novel compound heterozygous AIPL1 variants were detected in two patients, which were c.923T to C (p.L308P) and c.421C to T (p.Q141X) variants in Family 1, c.572T to C (p.L191P) and c.421C to T (p.Q141X) in Family 2.@*CONCLUSION@#The results supported that AIPL1 gene variants are the main cause of the two CORD families. Whole-exome sequencing technology is a useful tool in the clinical differentiated diagnosis and genetic counseling for CORD patients.
Subject(s)
Humans , Asian People , Carrier Proteins , Genetics , Cone-Rod Dystrophies , Genetics , Eye Proteins , Genetics , Mutation , Pedigree , Exome SequencingABSTRACT
Objective@#To detect pathogenic gene variants in two Chinese families with cone-rod dystrophy(CORD).@*Methods@#After the informed consent and comprehensive ophthalmic examinations for the patients, 3 mL peripheral blood was taken from the patients’ blood vessel and DNA was extracted. The DNA was sequenced by whole-exome sequencing technology and variants were analyzed.@*Results@#Two novel compound heterozygous AIPL1 variants were detected in two patients, which were c. 923T>C(p.L308P) and c. 421C>T(p.Q141X) variants in Family 1, c. 572T>C(p.L191P) and c. 421C>T(p.Q141X) in Family 2 .@*Conclusion@#The results supported that AIPL1 gene variants are the main cause of the two CORD families. Whole-exome sequencing technology is a useful tool in the clinical differentiated diagnosis and genetic counseling for CORD patients.
ABSTRACT
Posterior capsular opacification (PCO) is a common complication after extracapsular cataract extraction,which is drawing more attentions because of secondary vision loss,and the study on PCO pathogenesis mechanism is a key for the targeting prevention and treatment of PCO.The study of PCO pathogenesis mechanism showed that autophagy and apoptosis are associated with PCO,and it was also determined that the activation of related signal-transduction pathway plays an important role in PCO formation,for example,the release of inflammatory factors and cytokines following cataract extraction activate the signal transduction and genetic transcription of lens epithelial cells (LECs) and further promote the proliferation,migration and epithelial-mesenchymal transition (EMT) of residual LECs,which is a pathological basis of PCO.It is a challenge for us to investigate the effective treating method of PCO basis on its pathogenesis.Up to now,the studies of drugs targeting PCO and genetic therapy which based on the advances in epigenetics have made great progress.Ophthalmic researchers should pay close attention to the latest trends of basic research,track the methodology and exploit the emerging spotlight,explore the novel means of treatments of PCO,and expand the promising future of PCO prevention and treatment.