摘要报道1例女性X连锁铁粒幼细胞性贫血伴共济失调（XLSA/A）患者的临床及遗传学特征。患者36岁，隐匿起病，进行性加重，主要表现为共济失调、构音障碍及认知功能下降。头颅磁共振成像显示脑干及小脑轻度萎缩。全基因组测序发现 ABCB7基因存在c.871G>A（p.G291S）杂合变异，来自患者母亲。X染色体失活分析结果显示偏移比例为82%（以父源X染色体失活为主）。文中首次报道了女性 ABCB7 基因c.871G>A杂合变异致XLSA/A病例，表明X染色体失活偏倚可导致女性携带者出现临床表现，扩展了对XLSA/A发病机制的认识。

abstractsThis article reports the clinical and genetic characteristics of a female patient with X-linked sideroblastic anemia with ataxia (XLSA/A). The 36-year-old patient had an insidious onset with progressive worsening, primarily presenting with ataxia, dysarthria, and cognitive decline. Magnetic resonance imaging of the head revealed mild atrophy of the brainstem and cerebellum. Whole-genome sequencing identified a heterozygous c.871G>A (p.G291S) variant in the ABCB7 gene, inherited from the patient′s mother. X-chromosome inactivation analysis showed a skewed ratio of 82% (with predominant inactivation of the paternal X chromosome). This study is the first to report a case of XLSA/A in a female caused by a heterozygous ABCB7 gene c.871G>A variant, indicating that skewed X-chromosome inactivation can lead to clinical manifestations in female carriers, expanding the understanding of the pathogenesis of XLSA/A.