A case report of X-linked sideroblastic anemia with ataxia in a female patient and review of the literature

VernacularTitle:X连锁铁粒幼细胞性贫血伴共济失调女性患者1例并文献复习
Author: Huijing LIU ¹ ; Yueying LIU ¹ ; Yi LI ¹ ; Yun JIANG ¹
Author Information

1. 北京医院神经内科　国家老年医学中心　中国医学科学院老年医学研究院，北京　100730
Publication Type:Journal Article
Keywords: Ataxia; Dysarthria; Cognitive decline; X-linked sideroblastic anemia with ataxia
From: Chinese Journal of Neurology 2025;58(12):1311-1315
CountryChina
Language:Chinese
Abstract: This 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.