Galactosialidosis is an autosomal recessive lysosomal storage disease caused by the combined deficiency of lysosomal β-galactosidase and neuraminidase due to a defect in the protective protein/cathepsin A. Patients present with various clinical manifestations and are classified into three types according to the age of onset: the early infantile type, the late infantile type, and the juvenile/adult type. We report a Japanese female case of juvenile/adult type galactosialidosis. Clinically, she presented with short stature, coarse facies, angiokeratoma, remarkable action myoclonus, and cerebellar ataxia. The patient was diagnosed with galactosialidosis with confirmation of impaired β-galactosidase and neuraminidase function in cultured skin fibroblasts. Sanger sequencing for CTSA identified a compound heterozygous mutation consisting of NM_00308.3(CTSA):c.746 + 3A>G and c.655-1G>A. Additional analysis of her mother's DNA sequence indicated that the former mutation originated from her mother, and therefore the latter was estimated to be from the father or was a de novo mutation. Both mutations are considered pathogenic owing to possible splicing abnormalities. One of them (c.655-1G>A) is novel because it has never been reported previously.

中文翻译：

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半乳糖唾液酸中毒的CTSA基因中的一个新的杂合复合突变。

半乳糖唾液酸中毒是一种常染色体隐性遗传的溶酶体贮积病，由保护蛋白/组织蛋白酶A的缺陷引起的溶酶体β-半乳糖苷酶和神经氨酸酶的联合缺乏引起。患者表现出各种临床表现，根据发病年龄分为三类：早期婴儿型，晚期婴儿型和青少年/成人型。我们报告了日本女性青少年/成人型半乳唾液中毒的病例。在临床上，她表现出身材矮小，相貌粗糙，血管角膜瘤，明显的动作性肌阵挛和小脑性共济失调。该患者被诊断为半乳糖醛固着病，并证实培养的皮肤成纤维细胞中β-半乳糖苷酶和神经氨酸酶功能受损。CTSA的Sanger测序确定了由NM_00308组成的复合杂合突变。3（CTSA）：c.746 + 3A> G和c.655-1G> A。对她母亲的DNA序列的进一步分析表明，前者的突变起源于她的母亲，因此，后者的突变估计来自父亲，或者是从头突变。由于可能的剪接异常，两种突变都被认为是致病的。其中一个（c.655-1G> A）很新颖，因为以前从未有过报道。