Analysis of gene variants in familial and non-familial primary open angle glaucoma Pakistani patients.

Aim: To find out the association of secreted protein acidic and rich in cysteine (SPARC)-related modular calcium binding 2 () gene variants rs2255680 and rs13208776 with genotypic and phenotypic characteristics in both familial and non-familial primary open angle glaucoma (POAG) patients.

Methods: A total of 212 POAG patients, comprising 124 familial and 88 non-familial, were enrolled. For genotyping the variant rs2255680, amplification refractory mutation system (ARMS)-polymerase chain reaction (PCR) method and PCR-restriction fragment length polymorphism (PCR-RFLP) were utilized for analyzing rs13208776 variant.

Identification of Two Mutations in PCDHGA4 and SLFN14 Genes in an Atrial Septal Defect Family.

Atrial septal defect (ASD) is a common acyanotic congenital cardiac disorder associated with genetic mutations. The objective of this study was to identify the genetic factors in a Chinese family with ASD patients by a whole exome sequencing approach. Causative ASD gene mutations were examined in 16 members from a three-generation family, among which 6 individuals were diagnosed as having ASD.