Abstract for presentation at 11th International Congress of Human Genetics

Phenotyping, Sequencing and Karyotyping of Blepharocheilodontic Patients

  • Peter Jezewski, The Forsyth Institute, Harvard School of Dental Medicine, United States
  • Dr Virginia Kimonis, Children's Hospital Boston, Harvard Medical School, United States
  • Dr Raoul Hennekam, University College London, University of Amsterdam, United Kingdom
  • Dr Charles Lee, Brigham and Women's Hospital, Harvard Medical School, United States
  • Dr Max Goodson, The Forsyth Institute, Harvard School of Dental Medicine, United States
  • Dr John Mulliken, Children's Hospital Boston, Harvard Medical School, United States

    • Introduction: Blepharo-Cheilo-Dontic Syndrome (BCDS) is a rare, autosomal dominant syndrome with three cardinal features: ectropion of the eyelids, bilateral cleft lip and palate along with missing or conical teeth. An additional set of variably penetrant features involving ectodermal/endodermal inductions have also been reported. While there are less than a dozen reports of this syndrome in almost one hundred years, the high proportion of patients with bilateral cleft lip and palate make this a particularly important syndrome to study.
    Purpose: The purpose of these studies is two fold. First, detailed medical and dental re-examinations will be performed on a cohort of cases previously treated at Children’s Hospital Boston displaying cardinal features of BCDS in order to better describe this syndrome. Second, we are searching for causative mutations using a variety of methods in the hope of understanding the theme that unites these different pathologies.
    Methods: A set of candidate genes identified from comparison of BCDS to similar human syndromes and specific mouse knockouts will be sequenced. Comparative Genome Hybridization (CGH) protocols will be used to look for aneuploides that might identify the locus of a pathological translocation. Fluorescence In Situ Hybridization (FISH) will be used to look for smaller deletions at the candidate gene loci. Thyroid function will be examined as recent reports suggest hypothyroidism or even thyroid agenesis in some patients.
    Results: To date, chart reviews of nine patients suggests several new phenotypes that are found in different families. The candidate gene sequencing, CGH and FISH protocols and the thyroid function tests are ongoing as the patients are enrolled in the study.
    Conclusions: We hope to better describe the BlepharoCheilo-Dontic Syndrome and find the causative mutations in the near future.

    Conference Organiser - ICMS Pty Ltd