New mutation in the MYOC gene and its association with primary open-angle glaucoma in a Chinese family

Abstract

Myocilin (MYOC) gene is expressed in many ocular tissues, including the trabecular meshwork, a specialized eye tissue essential in regulating intraocular pressure. Many mutations in MYOC have been detected in primary open-angle glaucoma (POAG). We investigated whether MYOC mutations contributed to the susceptibility to POAG in a Chinese family. In a four-generation family affected with POAG, ocular examinations were performed on all members of the pedigree to determine their disease status, and 200 healthy matched controls were recruited. PCR-restriction fragment length polymorphism (PCR-RFLP) analysis and DNA sequencing were used to determine the mutations in MYOC. Biological software was used to analyze the corresponding proteins for missense mutations. The c.1084G>- was found, for the first time, in four of eight affected patients and in one of two patients with suspected POAG. The c.1006C>T mutation was found in two of eight patients and in one of 19 subjects who were asymptomatic. The frequencies of c.1084G>- and c.1006C>T were 12.82 and 7.69%, respectively, in patients but not in the controls. These data provide additional clues to the pathogenesis of POAG because no other mutation was detected in either group. Our results suggest that the MYOC c.1084G>- may contribute to a genetic predisposition to POAG.

GTF2A1L frameshift variant of a primary open angle glaucoma family from Chinese Han nationality

“…This form of OAG is known as primary open-angle glaucoma (POAG) [3] . POAG is a progressive optic neuropathy that cannot be identi able until signi cant or even irreversible loss of visual eld has occurred [4] . Family history, increased IOP, decreased corneal thickness, and advanced age are important risk factors for POAG [5] .…”