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Branchio-oto-renal syndrome caused by partial EYA1 deletion due to LINE-1 insertion

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  • Naoya Morisada
  • Nanna Dahl Rendtorff
  • Kandai Nozu
  • Takahiro Morishita
  • Takayuki Miyakawa
  • Tohru Matsumoto
  • Satoshi Hisano
  • Kazumoto Iijima
  • Lisbeth Tranebjaerg
  • Akira Shirahata
  • Masafumi Matsuo
  • Koichi Kusuhara
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A 7-year-old Japanese girl with conductive deafness and preauricular fistulae developed proteinuria. She had renal insufficiency, and ultrasound revealed bilateral small kidneys. These findings indicated that she had branchio-oto-renal (BOR) syndrome. In the present patient, we identified, by using multiplex ligation-dependent probe amplification (MLPA) analysis, a heterozygous EYA1 gene deletion comprising at least exons 5 to 7. In her parents, we did not detect any deletion in EYA1 by MLPA, so the deletion was a de novo mutation. PCR analysis and sequencing of patient DNA revealed a heterozygous approximately 17 kb EYA1 deletion starting from the eight last bases of exon 4 and proceeding to base 1,217 of intron 7. Furthermore, in place of this deleted region was inserted a 3756-bp-long interspersed nuclear elements-1 (LINE-1, L1). Accordingly, RT-PCR showed that exons 4-7 were not present in EYA1 mRNA expressed from the mutated allele. Although there are reports of L1 element insertion occurring in various human diseases, this is the first report of a large EYA1 deletion in combination with L1 element insertion.
Original languageEnglish
JournalPediatric nephrology (Berlin, Germany)
Volume25
Issue number7
Pages (from-to)1343-8
Number of pages6
DOIs
Publication statusPublished - 1 Jul 2010

ID: 32230273