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Phenotype variability in Hajdu-Cheney syndrome.

Miriam Regev1, Ben Pode-Shakked2, Jeffrey M Jacobson3

  • 1The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel-Hashomer, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.

European Journal of Medical Genetics
|April 27, 2018
PubMed
Summary

Hajdu Cheney syndrome (HCS) is a rare genetic disorder affecting bones and multiple organs due to NOTCH2 gene variants. This report details two cases, highlighting HCS

Keywords:
Hajdu Cheney syndromeNOTCH2Phenotypic variability

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Area of Science:

  • Genetics and rare diseases
  • Skeletal dysplasias
  • Molecular diagnostics

Background:

  • Hajdu Cheney syndrome (HCS) is a rare autosomal dominant skeletal dysplasia characterized by multi-organ involvement.
  • Pathogenic variants in the NOTCH2 gene are the known cause of HCS.
  • HCS presents with progressive bone destruction, craniofacial anomalies, hearing loss, cardiovascular, and renal involvement.

Observation:

  • Diagnosis of HCS is often delayed due to its rarity and wide phenotypic variability.
  • Distinct radiographic findings like a serpentine fibula can aid in diagnosis.
  • Two unrelated patients from Turkish/Lebanese Jewish and Ashkenazi Jewish descent presented with unique clinical challenges.

Findings:

  • Molecular diagnosis was achieved in both patients after distinct diagnostic journeys.
  • The cases illustrate the broad spectrum of clinical manifestations in HCS.
  • NOTCH2 pathogenic variants confirmed the diagnosis in both individuals.

Implications:

  • These case reports contribute valuable knowledge to the understanding of HCS.
  • Recognizing the phenotypic variability is crucial for timely HCS diagnosis.
  • Further research into NOTCH2 variants can improve diagnostic strategies for HCS.