Institute of Human Genetics, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, 79106 Freiburg, Germany.
Eye Center, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, 79106 Freiburg, Germany.
Genes (Basel). 2022 Mar 8;13(3):478. doi: 10.3390/genes13030478.
Optic atrophy 1 (MIM #165500) is caused by pathogenic variants in the gene OPA1 (OPA1 MITOCHONDRIAL DYNAMIN-LIKE GTPase, MIM *605290) and is inherited in an autosomal dominant manner. We describe a 6-year-old male patient with severe early onset manifestation of optic atrophy, whose parents are subjectively asymptomatic. OPA1-sequence analysis revealed the heterozygous missense variant NM_015560.3:c.806C>T, p.(Ser269Phe) in the patient. Segregation analysis of the parents showed that the mother carried a low-grade postzygotic mosaic of this variant, which apparently also involves germline cells. In line with this, ophthalmological investigation of the mother showed subclinical manifestation of optic atrophy 1. This is the first report of an OPA1 postzygotic mosaic that was inherited to offspring.
视神经萎缩 1（MIM #165500）是由 OPA1 基因（OPA1 线粒体动力相关 GTP 酶，MIM *605290）中的致病性变异引起的，呈常染色体显性遗传方式。我们描述了一位 6 岁男性患者，他有严重的早期视神经萎缩表现，其父母主观上无症状。OPA1 序列分析显示患者存在杂合错义变异 NM_015560.3:c.806C>T，p.(Ser269Phe)。父母的分离分析表明，母亲携带该变异的低级别合子后嵌合体，显然也涉及生殖细胞。与此一致，对母亲的眼科检查显示出视神经萎缩 1 的亚临床表现。这是首例报道的 OPA1 合子后嵌合体遗传给后代的病例。
