Human Genetics

, Volume 108, Issue 5, pp 398–403

Oto-facio-cervical (OFC) syndrome is a contiguous gene deletion syndrome involving EYA1: molecular analysis confirms allelism with BOR syndrome and further narrows the Duane syndrome critical region to 1 cM

  • Sarah Rickard
  • Michael Parker
  • William van't Hoff
  • Angela Barnicoat
  • Isabelle Russell-Eggitt
  • Robin Winter
  • Maria Bitner-Glindzicz
Original Investigation

DOI: 10.1007/s004390100495

Cite this article as:
Rickard, S., Parker, M., van't Hoff, W. et al. Hum Genet (2001) 108: 398. doi:10.1007/s004390100495

Abstract.

Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder involving hearing loss, branchial defects, ear pits and renal abnormalities. Oto-facio-cervical (OFC) syndrome is clinically similar to BOR syndrome, with clinical features in addition to those of BOR syndrome. Mutations in the EYA1 gene (localised to 8q13.3) account for nearly 70% of BOR syndrome cases exhibiting at least three of the major features. Small intragenic deletions of the 3' region of the gene have also been reported in patients with BOR syndrome. We have developed a fluorescent quantitative multiplex polymerase chain reaction for three 3' exons (7, 9 and 13) of the EYA1 gene. This dosage assay, combined with microsatellite marker analysis, has identified de novo deletions of the EYA1 gene and surrounding region in two patients with complex phenotypes involving features of BOR syndrome. One patient with OFC syndrome carried a large deletion of the EYA1 gene region, confirming that OFC syndrome is allelic with BOR syndrome. Microsatellite analysis has shown that comparison of the boundaries of this large deletion with other reported rearrangements of the region reduces the critical region for Duane syndrome (an eye movement disorder) to between markers D8S553 and D8S1797, a genetic distance of approximately 1 cM.

Copyright information

© Springer-Verlag 2001

Authors and Affiliations

  • Sarah Rickard
    • 1
  • Michael Parker
    • 3
  • William van't Hoff
    • 4
  • Angela Barnicoat
    • 2
  • Isabelle Russell-Eggitt
    • 5
  • Robin Winter
    • 2
  • Maria Bitner-Glindzicz
    • 2
  1. 1.The North Thames (East) Regional Clinical Molecular Genetics Laboratory, Level 5, Camelia Botnar Laboratories, Great Ormond Street, London, WC1N 3JH, UK
  2. 2.Clinical and Molecular Genetics Unit, Institute of Child Health, 30 Guilford Street, London, WC1N 1EH, UK
  3. 3.Department of Clinical Genetics, Leicester Royal Infirmary, Leicester, LE1 5WW, UK
  4. 4.Department of Nephrourology, Great Ormond Street Hospital, Great Ormond Street, London, WC1N 3JH, UK
  5. 5.Department of Ophthalmology, Great Ormond Street Hospital, Great Ormond Street, London, WC1N 3JH, UK