Department of Ophthalmology, Flinders University, Flinders Medical Centre, Adelaide, Australia.
Department of Ophthalmology, Flinders University, Flinders Medical Centre, Adelaide, Australia.
Gene. 2014 Jul 25;545(2):271-5. doi: 10.1016/j.gene.2014.04.033. Epub 2014 Apr 21.
MYOC gene variants are associated with autosomal dominant primary open angle glaucoma (POAG). In this study, we describe a previously unreported MYOC variant segregating with a POAG phenotype in an Australian family. Two individuals affected with POAG and three unaffected individuals from the same family were recruited through the Australian and New Zealand Registry of Advanced Glaucoma (ANZRAG). Direct sequencing of all MYOC coding exons identified the novel heterozygous single nucleotide transition MYOC:c.1119G>A, p.(Trp373), predicted to encode an aberrant truncated MYOC protein in two affected siblings. Two unaffected siblings and an unaffected niece were negative for the MYOC sequence variant.
MYOC 基因突变与常染色体显性原发性开角型青光眼（POAG）有关。在本研究中，我们描述了一个以前未报道的 MYOC 变体，它在一个澳大利亚家族中与 POAG 表型分离。通过澳大利亚和新西兰高级青光眼登记处（ANZRAG）招募了两名受 POAG 影响的个体和三名来自同一家庭的未受影响的个体。对所有 MYOC 编码外显子的直接测序确定了一种新的杂合单核苷酸转换 MYOC:c.1119G>A，p.（Trp373），预计在两个受影响的兄弟姐妹中编码异常截断的 MYOC 蛋白。两名未受影响的兄弟姐妹和一名未受影响的侄女的 MYOC 序列变体均为阴性。
