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Related Experiment Video

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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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HSD17B4-Related Disorder: Defining the Phenotype in Adult-Onset Patients.

Grazia Maria Igea Falcone1,2, Alessandra Tessa3, Cristiano Rizzo4

  • 1Department of Biomedical and Dental Sciences and Morphofunctional Images, University of Messina, Italy.

Neurology. Genetics
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Biallelic variants in HSD17B4 cause D-bifunctional protein deficiency. This study describes adult-onset ataxia in five patients, expanding the known clinical spectrum of this peroxisomal disorder.

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Area of Science:

  • Genetics
  • Biochemistry
  • Neurology

Background:

  • Biallelic variants in HSD17B4 cause D-bifunctional protein (DBP) deficiency, a peroxisomal fatty acid β-oxidation disorder.
  • Initially associated with neonatal onset and early lethality, recent advances reveal an expanded spectrum including adult-onset ataxia.

Purpose of the Study:

  • To describe five additional adult cases of DBP deficiency.
  • To highlight the characteristic phenotype and expand the genotypic-phenotypic spectrum.

Main Methods:

  • Clinical examination of five affected individuals with DBP deficiency.
  • Genetic analysis using a custom-targeted sequencing panel for hereditary ataxias.
  • Peroxisomal investigations on blood specimens.

Main Results:

  • Core manifestations included slowly progressive cerebellar ataxia, subclinical sensorineural hearing loss, and hypergonadotropic hypogonadism.
  • Novel HSD17B4 variants were identified in affected individuals.
  • Peroxisomal profiles were normal in investigated patients.

Conclusions:

  • This case series expands the phenotypic-genotypic spectrum of DBP deficiency.
  • Diagnosis impacts genetic counseling and reproductive planning for affected women.
  • No disease-modifying treatments are currently available.