Case Report: A rare case of fucosidosis caused by a novel homozygous pathogenic variant in the FUCA1 gene within a 17.2 Mb region of homozygosity - Report - MDSpire

Case Report: A rare case of fucosidosis caused by a novel homozygous pathogenic variant in the FUCA1 gene within a 17.2 Mb region of homozygosity

  • By

  • Hua Wang

  • Weirong Xing

  • June 30, 2026

  • 0 min

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Clinical Report: An Uncommon Instance of Fucosidosis Linked to a New Variant

Background

Fucosidosis is a rare autosomal recessive lysosomal storage disorder caused by mutations in the FUCA1 gene, leading to deficient α-L-fucosidase activity. The disorder presents with a wide clinical spectrum, including neurological regression and systemic involvement.

Data Highlights

No numerical or trial data available in the source material.

Key Findings

  • A novel homozygous nonsense mutation, c.557 T > A (p.Leu186*), was identified in the FUCA1 gene.
  • The patient presented with progressive neurological symptoms and atypical angiokeratoma-like skin lesions.
  • Hepatosplenomegaly and cardiac involvement were notably absent in this case.
  • Recurrent respiratory illnesses were reported as additional clinical features.
  • This case expands the mutation spectrum of the FUCA1 gene associated with fucosidosis.

Clinical Implications

Clinicians should be aware of the phenotypic variability of fucosidosis to improve recognition and management of this rare disorder.

Conclusion

This case highlights the phenotypic heterogeneity of fucosidosis.

Related Resources & Content

  1. Fucosidosis - GeneReviews® - NCBI Bookshelf, 2026 -- Fucosidosis
  2. Frontiers in Medicine — Case Report: A novel variant in fibrillin-2 identified in a congenital contractural arachnodactyly family with phenotypic heterogeneity
  3. Acta Neuropathologica — C9orf72 GGGGCC Repeat Expansion Homozygosity in Frontotemporal Dementia
  4. Acta Neuropathologica — Deficiency of UGP2 in the brain results in a profound epileptic encephalopathy, highlighting that bi-allelic mutations leading to isoform-specific start-loss in critical genes can result in genetic disorders.
  5. Frontiers in Cardiovascular Medicine — A novel FHOD3 splice-site variant in a Chinese family with hypertrophic cardiomyopathy: a case report
  6. Fucosidosis - GeneReviews® - NCBI Bookshelf
  7. ClinGen Variant Classification Guidance - ClinGen | Clinical Genome Resource

Original Source(s)

Case Report: A rare case of fucosidosis caused by a novel homozygous pathogenic variant in the FUCA1 gene within a 17.2 Mb region of homozygosity

  • by Hua Wang, Weirong Xing

  • June 30, 2026

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