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A syndrome of holoprosencephaly, recurrent infections, and monocytosis

Paul T Jubinsky1, Alan L Shanske, Fiona J Pixley

  • 1Pediatric Hematology/Oncology, Albert Einstein College of Medicine and Children's Hospital at Montefiore, Bronx, New York, USA. pjubinsk@aecom.yu.edu

American Journal of Medical Genetics. Part A
|November 15, 2006
PubMed

Insights

This study reports on three siblings with holoprosencephaly, recurrent infections, and abnormal monocytes. It highlights a potential link between mononuclear phagocyte dysfunction and this severe developmental disorder.

Area of Science:

  • Genetics
  • Immunology
  • Developmental Biology

Background:

  • Holoprosencephaly (HPE) is a spectrum of brain malformations.
  • Recurrent infections and developmental delays are common in HPE patients.
  • The genetic basis of HPE is complex, involving multiple genes.

Observation:

  • Three siblings presented with holoprosencephaly, microcephaly, developmental delay, and failure to thrive.
  • Affected individuals experienced recurrent respiratory and skin infections, and endocrine dysfunction.
  • Peripheral blood monocytes showed abnormal morphology despite normal lymphocyte function and karyotypes.

Findings:

  • Mutation analysis of seven known HPE-associated genes (SHH, ZIC2, SIX3, TGI, FTDGF1, GLI2, PTCH) was negative in affected siblings.
  • A significant finding was peripheral blood monocytosis with markedly abnormal morphology.
  • This is the first report linking abnormal mononuclear phagocytes to holoprosencephaly.

Implications:

  • Suggests a potential novel genetic or cellular pathway involved in holoprosencephaly.
  • Highlights the role of immune system dysfunction in severe congenital anomalies.
  • Warrants further investigation into mononuclear phagocyte function in HPE pathogenesis.

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