Long-term outcomes in two adult siblings with Fucosidosis. Diagnostic odyssey and clinical manifestations

Fucosidosis (OMIN# 230000) is a rare lysosomal storage disorder (LSDs) caused by mutations in the FUCA1 gene, leading to alpha-L-fucosidase deficiency; it is inherited as an autosomal recessive trait. Fucosidosis represents a disease spectrum with a wide variety of clinical features, but most affect...

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Autores: Puente Ruiz, Nuria, Ellis, Ian, Bregu, Marsel, Chen, Cliff, Church, Heather J., Tylee, Karen L., Gladston, Shalini, Hackett, Richard, Oldham, Andrew, Virk, Surinder, Hendriksz, Christian, Morris, Andrew A. M., Jones, Simon A., Stepien, Karolina M.
Tipo de recurso: artículo
Fecha de publicación:2023
País:España
Institución:Universidad de Cantabria (UC)
Repositorio:UCrea Repositorio Abierto de la Universidad de Cantabria
Idioma:inglés
OAI Identifier:oai:repositorio.unican.es:10902/31013
Acceso en línea:https://hdl.handle.net/10902/31013
Access Level:acceso abierto
Palabra clave:Fucosidosis
Angiokeratomas
Learning disability
Long-term outcomes
Natural history
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spelling Long-term outcomes in two adult siblings with Fucosidosis. Diagnostic odyssey and clinical manifestationsPuente Ruiz, NuriaEllis, IanBregu, MarselChen, CliffChurch, Heather J.Tylee, Karen L.Gladston, ShaliniHackett, RichardOldham, AndrewVirk, SurinderHendriksz, ChristianMorris, Andrew A. M.Jones, Simon A.Stepien, Karolina M.FucosidosisAngiokeratomasLearning disabilityLong-term outcomesNatural historyFucosidosis (OMIN# 230000) is a rare lysosomal storage disorder (LSDs) caused by mutations in the FUCA1 gene, leading to alpha-L-fucosidase deficiency; it is inherited as an autosomal recessive trait. Fucosidosis represents a disease spectrum with a wide variety of clinical features, but most affected patients have slow neurologic deterioration. Many patients die young and the long-term clinical outcomes in adult patients are poorly documented. Here, we report the long-term follow up of two Caucasian siblings, a 31-year-old man and 25-year-old woman. We describe the clinical, biochemical, radiological and genetic findings in two siblings affected by Fucosidosis and the differences between them after 19-years follow up. The dermatological features of the younger sibling have been reported previously by Bharati et al. (2007). Both patients have typical features of Fucosidosis, such as learning difficulties, ataxia, and angiokeratomas with differing severity. Case 1 presents severe ataxia with greater limitation of mobility, multiple dysostoses, angiokeratomas on his limbs, retinal vein enlargement and increased tortuosity in the eye and gastrointestinal symptoms. Biochemical analysis demonstrated a deficiency of alpha-fucosidase in leucocytes. Case 2 has a greater number of angiokeratomas and has suffered three psychotic episodes. The diagnosis of Fucosidosis was confirmed in cultured skin fibroblast at the age of 12 years. Molecular analysis of the FUCA1 gene showed a heterozygous mutation c.998G > A p.(Gly333Asp), with a pathogenic exon 4 deletion in the other allele in both patients. Conclusion. Fucosidosis presents a wide clinical heterogeneity and intrafamilial variability of symptoms. Psychosis and gastrointestinal symptoms have not been reported previously in Fucosidosis.Acknowledgements: The authors would like to thank the parents of both siblings for their ongoing support and assistance with the data collection for the manuscript.ElsevierUniversidad de Cantabria20232023-01-01journal articlehttp://purl.org/coar/resource_type/c_6501NAhttp://purl.org/coar/version/c_be7fb7dd8ff6fe43info:eu-repo/semantics/articlehttps://hdl.handle.net/10902/31013Molecular Genetics and Metabolism Reports, 2023, 37, 101009reponame:UCrea Repositorio Abierto de la Universidad de Cantabriainstname:Universidad de Cantabria (UC)Inglésengopen accesshttp://purl.org/coar/access_right/c_abf2Attribution 4.0 Internationalhttp://creativecommons.org/licenses/by/4.0/info:eu-repo/semantics/openAccessoai:repositorio.unican.es:10902/310132026-06-02T12:39:31Z
dc.title.none.fl_str_mv Long-term outcomes in two adult siblings with Fucosidosis. Diagnostic odyssey and clinical manifestations
title Long-term outcomes in two adult siblings with Fucosidosis. Diagnostic odyssey and clinical manifestations
spellingShingle Long-term outcomes in two adult siblings with Fucosidosis. Diagnostic odyssey and clinical manifestations
Puente Ruiz, Nuria
Fucosidosis
Angiokeratomas
Learning disability
Long-term outcomes
Natural history
title_short Long-term outcomes in two adult siblings with Fucosidosis. Diagnostic odyssey and clinical manifestations
title_full Long-term outcomes in two adult siblings with Fucosidosis. Diagnostic odyssey and clinical manifestations
title_fullStr Long-term outcomes in two adult siblings with Fucosidosis. Diagnostic odyssey and clinical manifestations
title_full_unstemmed Long-term outcomes in two adult siblings with Fucosidosis. Diagnostic odyssey and clinical manifestations
title_sort Long-term outcomes in two adult siblings with Fucosidosis. Diagnostic odyssey and clinical manifestations
dc.creator.none.fl_str_mv Puente Ruiz, Nuria
Ellis, Ian
Bregu, Marsel
Chen, Cliff
Church, Heather J.
Tylee, Karen L.
Gladston, Shalini
Hackett, Richard
Oldham, Andrew
Virk, Surinder
Hendriksz, Christian
Morris, Andrew A. M.
Jones, Simon A.
Stepien, Karolina M.
author Puente Ruiz, Nuria
author_facet Puente Ruiz, Nuria
Ellis, Ian
Bregu, Marsel
Chen, Cliff
Church, Heather J.
Tylee, Karen L.
Gladston, Shalini
Hackett, Richard
Oldham, Andrew
Virk, Surinder
Hendriksz, Christian
Morris, Andrew A. M.
Jones, Simon A.
Stepien, Karolina M.
author_role author
author2 Ellis, Ian
Bregu, Marsel
Chen, Cliff
Church, Heather J.
Tylee, Karen L.
Gladston, Shalini
Hackett, Richard
Oldham, Andrew
Virk, Surinder
Hendriksz, Christian
Morris, Andrew A. M.
Jones, Simon A.
Stepien, Karolina M.
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv Universidad de Cantabria
dc.subject.none.fl_str_mv Fucosidosis
Angiokeratomas
Learning disability
Long-term outcomes
Natural history
topic Fucosidosis
Angiokeratomas
Learning disability
Long-term outcomes
Natural history
description Fucosidosis (OMIN# 230000) is a rare lysosomal storage disorder (LSDs) caused by mutations in the FUCA1 gene, leading to alpha-L-fucosidase deficiency; it is inherited as an autosomal recessive trait. Fucosidosis represents a disease spectrum with a wide variety of clinical features, but most affected patients have slow neurologic deterioration. Many patients die young and the long-term clinical outcomes in adult patients are poorly documented. Here, we report the long-term follow up of two Caucasian siblings, a 31-year-old man and 25-year-old woman. We describe the clinical, biochemical, radiological and genetic findings in two siblings affected by Fucosidosis and the differences between them after 19-years follow up. The dermatological features of the younger sibling have been reported previously by Bharati et al. (2007). Both patients have typical features of Fucosidosis, such as learning difficulties, ataxia, and angiokeratomas with differing severity. Case 1 presents severe ataxia with greater limitation of mobility, multiple dysostoses, angiokeratomas on his limbs, retinal vein enlargement and increased tortuosity in the eye and gastrointestinal symptoms. Biochemical analysis demonstrated a deficiency of alpha-fucosidase in leucocytes. Case 2 has a greater number of angiokeratomas and has suffered three psychotic episodes. The diagnosis of Fucosidosis was confirmed in cultured skin fibroblast at the age of 12 years. Molecular analysis of the FUCA1 gene showed a heterozygous mutation c.998G > A p.(Gly333Asp), with a pathogenic exon 4 deletion in the other allele in both patients. Conclusion. Fucosidosis presents a wide clinical heterogeneity and intrafamilial variability of symptoms. Psychosis and gastrointestinal symptoms have not been reported previously in Fucosidosis.
publishDate 2023
dc.date.none.fl_str_mv 2023
2023-01-01
dc.type.none.fl_str_mv journal article
http://purl.org/coar/resource_type/c_6501
NA
http://purl.org/coar/version/c_be7fb7dd8ff6fe43
dc.type.openaire.fl_str_mv info:eu-repo/semantics/article
format article
dc.identifier.none.fl_str_mv https://hdl.handle.net/10902/31013
url https://hdl.handle.net/10902/31013
dc.language.none.fl_str_mv Inglés
eng
language_invalid_str_mv Inglés
language eng
dc.rights.none.fl_str_mv open access
http://purl.org/coar/access_right/c_abf2
Attribution 4.0 International
http://creativecommons.org/licenses/by/4.0/
dc.rights.openaire.fl_str_mv info:eu-repo/semantics/openAccess
rights_invalid_str_mv open access
http://purl.org/coar/access_right/c_abf2
Attribution 4.0 International
http://creativecommons.org/licenses/by/4.0/
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv Elsevier
publisher.none.fl_str_mv Elsevier
dc.source.none.fl_str_mv Molecular Genetics and Metabolism Reports, 2023, 37, 101009
reponame:UCrea Repositorio Abierto de la Universidad de Cantabria
instname:Universidad de Cantabria (UC)
instname_str Universidad de Cantabria (UC)
reponame_str UCrea Repositorio Abierto de la Universidad de Cantabria
collection UCrea Repositorio Abierto de la Universidad de Cantabria
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score 15,300719

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