{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,8]],"date-time":"2026-01-08T05:33:18Z","timestamp":1767850398775,"version":"3.49.0"},"reference-count":48,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2021,1,8]],"date-time":"2021-01-08T00:00:00Z","timestamp":1610064000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Fucosidosis is a rare neurodegenerative autosomal recessive disorder, which manifests as progressive neurological and psychomotor deterioration, growth retardation, skin and skeletal abnormalities, intellectual disability and coarsening of facial features. It is caused by biallelic mutations in FUCA1 encoding the \u03b1-L-fucosidase enzyme, which in turn is responsible for degradation of fucose-containing glycoproteins and glycolipids. FUCA1 mutations lead to severe reduction or even loss of \u03b1-L-fucosidase enzyme activity. This results in incomplete breakdown of fucose-containing compounds leading to their deposition in different tissues and, consequently, disease progression. To date, 36 pathogenic variants in FUCA1 associated with fucosidosis have been documented. Among these are three splice site variants. Here, we report a novel fucosidosis-related 9-base-pair deletion (NG_013346.1:g.10233_10241delACAGGTAAG) affecting the exon 3\/intron 3 junction within a FUCA1 sequence. This novel pathogenic variant was identified in a five-year-old Polish girl with a well-defined pattern of fucosidosis symptoms. Since it is postulated that other genetic, nongenetic or environmental factors can also contribute to fucosidosis pathogenesis, we performed further analysis and found two rare de novo chromosomal aberrations in the girl\u2019s genome involving a 15q11.1-11.2 microdeletion and an Xq22.2 gain. These abnormalities were associated with genome-wide changes in DNA methylation status in the epigenome of blood cells.<\/jats:p>","DOI":"10.3390\/genes12010074","type":"journal-article","created":{"date-parts":[[2021,1,10]],"date-time":"2021-01-10T19:55:56Z","timestamp":1610308556000},"page":"74","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["The Identification of a Novel Fucosidosis-Associated FUCA1 Mutation: A Case of a 5-Year-Old Polish Girl with Two Additional Rare Chromosomal Aberrations and Affected DNA Methylation Patterns"],"prefix":"10.3390","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8326-4850","authenticated-orcid":false,"given":"Agnieszka","family":"Domin","sequence":"first","affiliation":[{"name":"Department of Pediatrics and Pediatric Endocrinology and Diabetes, University of Rzeszow, Aleja Rejtana 16c, 35-959 Rzeszow, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9795-3232","authenticated-orcid":false,"given":"Tomasz","family":"Zabek","sequence":"additional","affiliation":[{"name":"National Research Institute of Animal Production, Krakowska 1, 32-083 Balice, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4159-977X","authenticated-orcid":false,"given":"Aleksandra","family":"Kwiatkowska","sequence":"additional","affiliation":[{"name":"Laboratory of Exercise Physiology and Biochemistry, Institute of Physical Culture Studies, College of Medical Sciences, University of Rzeszow, Aleja Rejtana 16c, 35-959 Rzeszow, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1588-4198","authenticated-orcid":false,"given":"Tomasz","family":"Szmatola","sequence":"additional","affiliation":[{"name":"National Research Institute of Animal Production, Krakowska 1, 32-083 Balice, Poland"},{"name":"University Centre of Veterinary Medicine, University of Agriculture in Krakow, Al. Mickiewicza 24\/28, 30-059 Krakow, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Deregowska","sequence":"additional","affiliation":[{"name":"Department of Biotechnology, University of Rzeszow, Aleja Rejtana 16c, 35-959 Rzeszow, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8055-1918","authenticated-orcid":false,"given":"Anna","family":"Lewinska","sequence":"additional","affiliation":[{"name":"Department of Biotechnology, University of Rzeszow, Aleja Rejtana 16c, 35-959 Rzeszow, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5393-3515","authenticated-orcid":false,"given":"Artur","family":"Mazur","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Pediatric Endocrinology and Diabetes, University of Rzeszow, Aleja Rejtana 16c, 35-959 Rzeszow, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8518-6670","authenticated-orcid":false,"given":"Maciej","family":"Wnuk","sequence":"additional","affiliation":[{"name":"Department of Biotechnology, University of Rzeszow, Aleja Rejtana 16c, 35-959 Rzeszow, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2021,1,8]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"Stepien, K.M., Ciara, E., and Jezela-Stanek, A. 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