Ontology type: schema:ScholarlyArticle
2010-07
AUTHORSNaoya Morisada, Nanna Dahl Rendtorff, Kandai Nozu, Takahiro Morishita, Takayuki Miyakawa, Tohru Matsumoto, Satoshi Hisano, Kazumoto Iijima, Lisbeth Tranebjærg, Akira Shirahata, Masafumi Matsuo, Koichi Kusuhara
ABSTRACTA 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. More... »
PAGES1343-1348
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