Publications by authors named "Mei-Jiao Ma"
Article Synopsis
- The study aimed to explore genetic and clinical traits of patients with a specific genetic deletion on chromosome 7, linked to familial exudative vitreoretinopathy (FEVR).
- Researchers initially used whole-exome sequencing but shifted to Oxford Nanopore long-read sequencing to precisely identify a 4.5 Mb copy number deletion affecting a gene related to FEVR in a family.
- The main participant (proband) exhibited severe FEVR symptoms resulting in significant vision loss, while her father and brother had milder symptoms, highlighting the variable presentation associated with this genetic deletion.
Purpose: Alström Syndrome (AS) is an autosomal recessive hereditary disease with the characteristics of multiorgan dysfunction. Due to the heterogeneity of clinical manifestations of AS, genetic testing is crucial for the diagnosis of AS. Herein, we used whole-exome sequencing (WES) to determine the genetic causes and characterize the clinical features of three affected patients in two Chinese families with Alström Syndrome.
View Article and Find Full Text PDFAim: To characterize the genetic causes and clinical features in a four-generation Chinese family with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES).
Methods: Thirteen patients with BPES and eight healthy family members were included in this study. All participants received routine ophthalmic examinations.