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Spinal muscular atrophy and Farber disease due to ASAH1 variants: A case report

Bo Hoon Lee1, Phillip Mongiovi2, Thierry Levade3

  • 1Division of Child Neurology, Department of Neurology, University of Rochester, Rochester, New York, USA.

American Journal of Medical Genetics. Part A
|July 7, 2020
PubMed

Insights

Genetic variations in the ASAH1 gene cause Farber disease (FD) and spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME). This study details a boy with novel ASAH1 variants exhibiting features of both FD and SMA.

Area of Science:

  • Genetics
  • Molecular Biology
  • Neurology

Background:

  • Genetic variations in the ASAH1 gene are linked to a spectrum of rare disorders.
  • These include Farber disease (FD), characterized by inflammatory nodules and joint issues, and spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME), involving motor neuron degeneration, epilepsy, and hearing loss.

Observation:

  • A 4-year-old boy presented with a complex phenotype exhibiting characteristics of both Farber disease and spinal muscular atrophy.
  • Clinical manifestations included features suggestive of both conditions, necessitating a detailed genetic investigation.

Findings:

  • Whole-exome sequencing identified two novel, heterozygous variants in the ASAH1 gene in the patient.
  • These previously unreported variants provide a genetic explanation for the patient's combined FD and SMA phenotype.

Implications:

  • This case expands the known genotypic and phenotypic spectrum associated with ASAH1 mutations.
  • Understanding these novel variants contributes to improved diagnostics and potential therapeutic strategies for patients with ASAH1-related disorders.
  • Further research into ASAH1 function is warranted to elucidate the mechanisms underlying this diverse range of clinical presentations.

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