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Variable expressivity in a family with an aggrecanopathy.

Antoine Denis1, Sami Chergui1, Shuaa Basalom1

  • 1Shriners Hospitals for Children, Montreal, Quebec, Canada.

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|December 11, 2021
PubMed
Summary

Dominant Familial Osteochondritis Dissecans (OCD) is a severe condition linked to ACAN gene variants. This study details a family with short stature and OCD, highlighting variable expressivity in aggrecanopathies.

Keywords:
aggrecanaggrecanopathycartilagechondrodysplasiafamilial osteochondritis dissecansosteochondritis dissecansskeletal dysplasia

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Area of Science:

  • Genetics and Molecular Biology
  • Orthopedics
  • Rare Diseases

Background:

  • Osteochondritis dissecans (OCD) involves subchondral bone lesions causing pain, inflammation, and cartilage damage.
  • Dominant Familial Osteochondritis Dissecans is a severe, rare form of OCD.
  • It stems from heterozygous pathogenic variants in the Aggrecan (ACAN) gene, crucial for cartilage integrity.

Observation:

  • A family presented with short stature, lower limb exostosis, and bilateral knee/elbow OCD in a 13-year-old proband.
  • The proband's twin brother had isolated short stature, and the father had short stature and lumbar disc herniation.
  • Next-generation sequencing revealed a frameshift variant in the ACAN gene in all affected family members.

Findings:

  • A novel frameshift variant in the ACAN gene was identified in a family with Dominant Familial Osteochondritis Dissecans.
  • The proband underwent surgical treatment (bilateral elbow microfracture) after conservative therapy failed.
  • This is the first reported case of osteochondritis dissecans associated with an ACAN frameshift variant in an aggrecanopathy.

Implications:

  • This family exhibits variable expressivity, suggesting potential roles for modifier genes in aggrecanopathies.
  • Understanding ACAN gene variants advances the diagnosis and management of rare skeletal dysplasias.
  • Highlights the genetic heterogeneity and phenotypic variability in Dominant Familial Osteochondritis Dissecans.