Chang Yin-Hsi, Kang Eugene Yu-Chuan, Liu Laura, Jenny Laura A, Khang Rin, Seo Go Hun, Lee Hane, Chen Kuan-Jen, Wu We-Chi, Hsiao Meng-Chang, Wang Nan-Kai
Chang Gung Memorial Hospital.
Chang Gung Memorial Hospital Linkou.
Res Sq. 2023 Mar 15:rs.3.rs-2554402. doi: 10.21203/rs.3.rs-2554402/v1.
Optic atrophy-13 with retinal and foveal abnormalities (OPA13) (MIM #165510) is a mitochondrial disease in which apparent bilateral optic atrophy is present and sometimes followed by retinal pigmentary changes or photoreceptors degeneration. OPA13 is caused by heterozygous mutation in the gene, associated with variable mitochondrial dysfunctions. We have previously reported a 16-year-old Taiwanese male diagnosed with OPA13 and variant c.320G>A (p.Arg107Gln) was identified by whole exon sequence (WES). This variant was assumed to be since his parents were clinically unaffected. However, WES and Sanger sequencing further revealed the proband’s unaffected mother carrying the same variant with a 13% variant allele frequency (VAF) in her peripheral blood. That finding strongly indicates the maternal gonosomal mosaicism contributing to OPA13, which has not been reported before. In summary, we described the first case of OPA13 caused by maternal gonosomal mosaicism in . Parental mosaicism could be a serious issue in OPA13 diagnosis, and appropriate genetic counseling should be considered.
伴有视网膜和黄斑异常的视神经萎缩13型（OPA13）（MIM #165510）是一种线粒体疾病，表现为明显的双侧视神经萎缩，有时随后会出现视网膜色素沉着变化或光感受器退化。OPA13由该基因的杂合突变引起，与可变的线粒体功能障碍有关。我们之前报道过一名16岁的台湾男性被诊断为OPA13，通过全外显子测序（WES）鉴定出c.320G>A（p.Arg107Gln）变异。由于他的父母临床上未受影响，该变异被认为是新发的。然而，WES和桑格测序进一步揭示，先证者未受影响的母亲外周血中携带相同的变异，变异等位基因频率（VAF）为13%。这一发现有力地表明母系性染色体嵌合现象导致了OPA13，此前尚未有相关报道。总之，我们描述了首例在[具体地区]由母系性染色体嵌合现象引起的OPA13病例。亲代嵌合现象在OPA13诊断中可能是一个严重问题，应考虑进行适当的遗传咨询。
