Galactosialidosis: review and analysis of CTSA gene mutations
Open accessAbstract
Background: Mutations in the CTSA gene, that encodes the protective protein/cathepsin A or PPCA, lead to the secondary deficiency of β-galactosidase (GLB1) and neuraminidase 1 (NEU1), causing the lysosomal storage disorder galactosialidosis (GS). Few clinical cases of GS have been reported in the literature, the majority of them belonging to the juvenile/adult group of patients. Methods: The correct nomenclature of mutations for this gene is discussed through the analysis of the three PPCA/CTSA isoforms available in the GenBank database. Phenotype-genotype correlation has been assessed by computational analysis and review of previously reported single amino acid substitutions. Results: We report the clinical and mutational analyses of four cases with the rare infantile form of GS. We identified three novel nucleotide changes, two of them resulting in the missense mutations, c.347A>G (p.His116Arg), c.775T>C (p.Cys259Arg), and the third, c.1216C>T, resulting in the p.Gln406* stop codon, a type of mutation identified for the first time in GS. An Italian founder effect of the c.114delG mutation can be suggested according to the origin of the only three patients carrying this mutation reported here and in the literature. Conclusions: In early reports mutations nomenclature was selected according to all CTSA isoforms (three different isoforms), thus generating a lot of confusion. In order to assist physicians in the interpretation of detected mutations, we mark the correct nomenclature for CTSA mutations. The complexity of pathology caused by the multifunctions of CTSA, and the very low numbers of mutations (only 23 overall) in relation to the length of the CTSA gene are discussed. In addition, the in silico functional predictions of all reported missense mutations allowed us to closely predict the early infantile, late infantile and juvenile phenotypes, also disclosing different degrees of severity in the juvenile phenotype.
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Several lysosomal hydrolases are ubiquitously expressed in macrophages, but others have more restricted tissue expression, and absence of some (e.g., Ctsa and Hexa) can cause severe neurological phenotypes.
“Several of them are ubiquitously expressed in macrophages (e.g., Ctsb, Ctsh, and Ctsc), but others have more restricted tissue expression, and their absence (e.g., Ctsa and Hexa) can cause severe neurological phenotypes”
From Cross-Species Single-Cell Analysis Reveals Divergence of the Primate Microglia Program (2019) · cites this paper as Caciotti et al., 2013
The Background (page unavailable) says CTSA mutations cause galactosialidosis and describes psychomotor delay and neurological deterioration among its manifestations, supporting the CTSA example. The cited paper does not establish the claimed macrophage expression patterns or tissue restrictions, and the passages retrieved do not address Hexa. (LLM, conf=0.86)
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 [23]
The Abstract (Results) reports several novel CTSA changes in infantile GS and suggests an Italian founder effect for the recurrent c.114delG mutation; the Discussion also describes that founder-effect hypothesis. The Results table lists multiple mutations associated with early-infantile disease, but the paper does not establish that this form has the most heterogeneous mutation pool compared with other forms. (LLM, conf=0.82)
Experimental — accuracy not yet measuredThere 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 [23]
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- Authors
- Caciotti, A., Catarzi, S., Tonin, R., Lugli, L., Perez, C. R., Michelakakis, H., Mavridou, I., Donati, M. A., Guerrini, R., d’Azzo, A., & Morrone, A.
- Affiliations
- Meyer Children's Hospital (IT)
- Azienda Ospedaliero-Universitaria di Modena (IT)
- Azienda Socio Sanitaria Territoriale degli Spedali Civili di Brescia (IT)
- Children's Hospital Agia Sophia (GR)
- St. Jude Children's Research Hospital (US)
- Corresponding author
- Morrone, Amelia
- ORCID
- Venue
- Orphanet Journal of Rare Diseases
- Published
- 2013-08-02
- Volume
- 8
- Issue
- 1
- Pages
- 114-114
- ISSN
- 1750-1172 (ISSN-L)
- PMC
- PMC3737020
- OpenAlex
- W2169337884
- Cited by
- 73
- References
- 28
- Citations by year
- 2026: 8 · 2025: 4 · 2024: 10 · 2023: 5 · 2022: 8 · 2021: 6 · 2020: 7 · 2019: 6 · 2018: 3 · 2017: 4 · 2016: 6 · 2015: 3 · 2014: 1 · 2013: 2
- FWCI
- 2.79
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- cc-by
- Locations
- Orphanet Journal of Rare Diseases (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Florence Research (University of Florence) (submittedVersion, other-oa)
- 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, cathepsin A, PpcA, beta-galactosidase deficiency, lysosomal storage disease, novel mutations, missense mutations, nonsense mutation, founder effect, mutation nomenclature, genotype-phenotype correlation
- MeSH terms
- Mutation, Lysosomal Storage Diseases, Sequence Analysis, DNA, Computational Biology, Mutation, Missense, Cathepsin A, Genetic Association Studies
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