HERV-mediated genomic rearrangement of EYA1 in an individual with branchio-oto-renal syndrome

Am J Med Genet A. 2010 Nov;152A(11):2854-60. doi: 10.1002/ajmg.a.33686.


Branchio-oto-renal syndrome is characterized by branchial defects, hearing loss, preauricular pits, and renal anomalies. Mutations in EYA1 are the most common cause of branchio-oto-renal and branchio-otic syndromes. Large chromosomal aberrations of 8q13, including complex rearrangements occur in about 20% of these individuals. However, submicroscopic deletions and the molecular characterization of genomic rearrangements involving the EYA1 gene have rarely been reported. Using the array-comparative genomic hybridization, we identified non-recurrent genomic deletions including the EYA1 gene in three patients with branchio-oto-renal syndrome, short stature, and developmental delay. One of these deletions was mediated by two human endogenous retroviral sequence blocks, analogous to the AZFa microdeletion on Yq11, responsible for male infertility. This report describes the expanded phenotype of individuals, resulting from contiguous gene deletion involving the EYA1 gene and provides a molecular description of the genomic rearrangements involving this gene in branchio-oto-renal syndrome.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Branchio-Oto-Renal Syndrome / genetics*
  • Child
  • Child, Preschool
  • Chromosome Deletion
  • Comparative Genomic Hybridization
  • Endogenous Retroviruses / genetics*
  • Female
  • Gene Deletion
  • Gene Rearrangement / genetics*
  • Genome, Human / genetics
  • Humans
  • Infant
  • Infant, Newborn
  • Intracellular Signaling Peptides and Proteins / genetics*
  • Male
  • Nuclear Proteins / genetics*
  • Pregnancy
  • Protein Tyrosine Phosphatase, Non-Receptor Type 11 / genetics
  • Protein Tyrosine Phosphatases / genetics*


  • Intracellular Signaling Peptides and Proteins
  • Nuclear Proteins
  • EYA1 protein, human
  • PTPN11 protein, human
  • Protein Tyrosine Phosphatase, Non-Receptor Type 11
  • Protein Tyrosine Phosphatases