Publications by authors named "Xiao-Sen Jiang"
Article Synopsis
- The study focused on analyzing the USH2A gene mutations in a cohort of 1,334 Chinese patients diagnosed with inherited retinal diseases (IRD), emphasizing their genetic profiles and mutations related to retinitis pigmentosa (RP) and Usher syndrome (USH).
- It identified that 16.34% of the genetically solved IRD patients had USH2A-related mutations, with notable distinctions in percentages between RP (14.87%) and USH (50%) patients, leading to the discovery of 768 distinct USH2A variants.
- The research highlights the significance of specific founder and hot spot mutations in the Chinese population, aiding in accurate genetic diagnoses and providing valuable data for genetic counseling and targeted therapies for IRD
Mutation spectrum in a cohort with familial exudative vitreoretinopathy.
Mol Genet Genomic Med
September 2022
Purpose: To expand the mutation spectrum of patients with familial exudative vitreoretinopathy (FEVR) disease.
Participants: 74 probands (53 families and 21 sporadic probands) with familial exudative vitreoretinopathy (FEVR) disease and their available family members (n = 188) were recruited for sequencing.
Methods: Panel-based targeted screening was performed on all subjects.