@article{oai:nagasaki-u.repo.nii.ac.jp:00000219,
 author = {Nakajima, Hideki and Ueno, Miki and Adachi, Kaori and Nanba, Eiji and Narita, Aya and Tsukimoto, Jun and Itoh, Kohji and Kawakami, Atushi},
 issue = {1},
 journal = {Human Genome Variation},
 month = {Apr},
 note = {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., Human Genome Variation, 6(1), art.no.22; 2019},
 title = {A new heterozygous compound mutation in the CTSA gene in galactosialidosis},
 volume = {6},
 year = {2019}
}