Japanese-type adult galactosialidosis. A unique and common splice junction mutation causing exon skipping in the protective protein/carboxypeptidase gene.
Open accessAbstract
cDNA and genomic sequences coding for human protective protein/carboxypeptidase were isolated and characterized. The cDNA sequence was identical with that reported by Galjart et al. (Cell 54: 755, 1988). Two clones hybridizing cDNA were isolated from the human chromosome 20 specific bacteriophage library, comprising the first 5 exons and the next 3 exons, respectively. The exon-intron organization was determined for these clones. Molecular analysis of Japanese adult-form galactosialidosis patients revealed a common gene rearrangement: an A-to-G base substitution at the position 3 by downstream of exon 7, resulting in skipping of this exon in mRNA. All five cases in this study were found to be homozygous for this mutation. We conclude that this is a common gene mutation among the Japanese galactosialidosis patients of late onset (Japanese type).
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There is a strong correlation between the type and combination of amino acid substitutions and the clinical outcome in GS.
“In general, we can assert that there is a strong correlation between the type and combination of amino acid substitutions and the clinical outcome.”
From Galactosialidosis: historic aspects and overview of investigated and emerging treatment options (2017) · cites this paper as [22]
The Materials and methods passage (page not provided) reports that five Japanese adults had the same splice-junction mutation and relatively homogeneous clinical manifestations. It does not compare types or combinations of amino acid substitutions or establish a strong correlation with clinical outcome; it also notes variable onset and possible effects of other factors. (LLM, conf=0.82)
Experimental — accuracy not yet measuredThe most heterogeneous pool of CTSA mutations has been found in patients with the severe, early infantile form of GS, although some recurrent mutations point to a founder effect in specific ethnic groups.
“As foreseeable, the most heterogeneous pool of CTSA mutations have been found in patients with the severe, early infantile form of GS, although some recurrent mutations seem to point to a founder effect in specific ethnic groups 20–23.”
From Galactosialidosis: historic aspects and overview of investigated and emerging treatment options (2017) · cites this paper as [22]
The Abstract and discussion passages report the same mutation in five Japanese patients with adult-onset galactosialidosis, supporting the recurrent-mutation aspect. The discussion does not establish a founder effect and explicitly says the authors had no information on mutations in early-onset galactosialidosis; it cannot support the claim that early infantile cases have the most heterogeneous mutations. Page numbers were not available in our copy. (LLM, conf=0.88)
Experimental — accuracy not yet measuredThe majority of CTSA mutations reported in the literature have been identified in Japanese patients, who share a common single base substitution at the donor splice site of intron 7 causing skipping of exon 7 (SpDEx7), and this mutation apparently segregates with the juvenile/adult type.
“By far, the majority of CTSA mutations reported in the literature have been identified in Japanese patients 8,20,21.”
From Galactosialidosis: historic aspects and overview of investigated and emerging treatment options (2017) · cites this paper as [22]
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- References Suzuki, Y, et al.: The Developing Brain and Its Disorders (eds. Arima, M., Suzu- ki, Y., and Yabuuchi, H.). Karger, Basel, pp.161-175 (1985).
- 'Azzo, A. et al.: Proc. Natl. Acad. Sci. U.S.A., '79, 4535-4539 (1982).
- Mueller, 0. T. et cal.: Proc. Natl. Acad. Sci. U.S.A., 83, 1817-1821 (1986).
- Sanger, F. G., Nicklen, S., and Coulson, A. R.: Proc. Natl. Acad. Sci. U.S.A., 74, 5463-5467 (1977).
- Myerowitz, R.: Proc. Natl. Acad. Sci. U.S.A., 85, 3955-3959 (1988).
Cited by
Sorted by citations
Galactosialidosis: review and analysis of CTSA gene mutations
Caciotti, A., Catarzi, S., Tonin, R., Lugli, L., Perez, C. R., Michelakakis, H., Mavridou, I., Donati, M. A., Guerrini, R., d’Azzo, A., et al. (2013) · Orphanet Journal of Rare Diseases · doi:10.1186/1750-1172-8-114 · Cited by 73 · see citing works
Galactosialidosis: historic aspects and overview of investigated and emerging treatment options
Annunziata, I., & d’Azzo, A. (2017) · Expert Opinion on Orphan Drugs · doi:10.1080/21678707.2016.1266933 · Cited by 50 · see citing works
- Authors
- SHIMMOTO, M., TAKANO, T., FUKUHARA, Y., OSHIMA, A., SAKURABA, H., & SUZUKI, Y.
- Affiliations
- Tokyo Metropolitan Institute of Medical Science (JP)
- Venue
- Proceedings of the Japan Academy, Series B
- Publisher
- Japan Academy
- Published
- 1990
- Volume
- 66
- Issue
- 10
- Pages
- 217-222
- ISSN
- 0386-2208 (ISSN-L)
- 1349-2896
- OpenAlex
- W2514604004
- Cited by
- 26
- References
- 0
- Citations by year
- 2022: 1 · 2020: 1 · 2019: 2 · 2018: 1 · 2017: 1 · 2016: 1 · 2015: 1 · 2013: 2
- FWCI
- 1.31
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Proceedings of the Japan Academy Series B (publishedVersion)
- Proceedings of the Japan Academy Series B
- Funders
- Ono Medical Research Foundation
- Topics
- Health Sciences › Medicine › Physiology › Lysosomal Storage Disorders Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Health Sciences › Medicine › Rheumatology › Glycogen Storage Diseases and Myoclonus
- Keywords
- galactosialidosis, lysosomal storage disease, splice site mutation, exon skipping, exon 7, cDNA cloning, exon-intron organization, chromosome 20, homozygous mutation, late-onset disease
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