Related Experiment Video

Updated: Jun 29, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

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First case of Hajdu-Cheney syndrome in Lithuania caused by novel NOTCH2 gene likely pathogenic variant

Ieva Tėvelytė1, Paulius Bertašius1, Kristina Aleknavičienė2

  • 1Lithuanian University of Health Sciences, Medical Academy, Medical Faculty, Lithuania.

European Journal of Medical Genetics
|April 5, 2024
PubMed

Insights

Hajdu-Cheney syndrome (HCS) is a rare genetic disorder affecting bones. This study details the first familial case, caused by a NOTCH2 gene variant, offering insights into HCS inheritance.

Area of Science:

  • Genetics
  • Skeletal Biology
  • Rare Diseases

Background:

  • Hajdu-Cheney syndrome (HCS) is an extremely rare autosomal dominant skeletal disorder with a prevalence under 1 in 1,000,000.
  • Characterized by acro-osteolysis, osteoporosis, craniofacial and dental anomalies, and potential renal issues.

Observation:

  • HCS is typically caused by pathogenic variants in the NOTCH2 gene.
  • This report presents the first documented familial case of HCS.

Findings:

  • The familial HCS case resulted from a likely pathogenic variant in the NOTCH2 gene: c.6449delC, p.(Pro2150LeufsTer5).
  • This finding highlights a specific genetic mutation responsible for HCS within a family.

Implications:

  • Understanding the genetic basis of HCS, particularly familial transmission, is crucial for diagnosis and genetic counseling.
  • Further research into NOTCH2 variants can elucidate HCS pathogenesis and inform potential therapeutic strategies.

Keywords:
AcroosteolysisHajdu-Cheney syndromeNOTCH2 geneOsteoporosis

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