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

@article{SanchezValle2010HERVmediatedGR,
  title={HERV-mediated genomic rearrangement of EYA1 in an individual with branchio-oto-renal syndrome.},
  author={Amarilis Sanchez-Valle and Xueqing Wang and Lorraine Potocki and Zhilian Xia and Sung-Hae Lee Kang and Mary E Carlin and Donnice Michel and Patricia Williams and Gerardo Cabrera-Meza and Ellen K. Brundage and Anna L Eifert and Paweł Stankiewicz and Sau W Cheung and Seema R. Lalani},
  journal={American journal of medical genetics. Part A},
  year={2010},
  volume={152A 11},
  pages={2854-60}
}
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… CONTINUE READING