徳島大学 教育・研究者情報データベース(EDB)

1. (英) Hideki Nakajima

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2. (英) Miki Ueno

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3. (英) Kaori Adachi

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4. (英) Eiji Nanba

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5. (英) Aya Narita

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6. (英) Jun Tsukimoto / (日) 月本 準 / (読) つきもと じゅん

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7. 伊藤 孝司

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8. (英) Atsushi Kawakami

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(英) A new heterozygous compound mutation in the CTSA gene in galactosialidosis

(英) 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.

1. (英) Article.ELocationID: 10.1038/s41439-019-0054-x

2. (英) Article.PublicationTypeList.PublicationType: Journal Article

3. (英) KeywordList.Keyword: Disease genetics

4. (英) KeywordList.Keyword: Genetics of the nervous system

5. (英) CoiStatement: The authors declare that they have no conflicts of interest.All procedures performed in studies involving human participants were in accordance with the ethical standards of the institution and/or national research committee and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards.Informed consent was obtained from all individual participants in this study.