ArticlePediatric nephrology (Berlin, Germany)2010
Branchio-oto-renal syndrome caused by partial EYA1 deletion due to LINE-1 insertion.
Article in Pediatric nephrology (Berlin, Germany), 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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19 citing papers in PubMed, 38 citations in OpenAlex.
- Misdiagnosed Branchio-Oto-Renal syndrome presenting as proteinuria and renal insufficiency with insidious signs since early childhood: a report of three cases.BMC nephrology · 2023Article
- Genetic research progress in branchioZhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences · 2022Article
- Genetic and Phenotypic Variability in Chinese Patients With Branchio-Oto-Renal or Branchio-Oto Syndrome.Frontiers in genetics · 2021Article
- Transposable elements in human genetic disease.Nature reviews. Genetics · 2019Review
- Clinically diverse phenotypes and genotypes of patients with branchio-oto-renal syndrome.Journal of human genetics · 2018Article
- AIntractable & rare diseases research · 2018Article
- Mobile DNA in Health and Disease.The New England journal of medicine · 2017Review
- Article
- Roles for retrotransposon insertions in human disease.Mobile DNA · 2016Review
- The Influence of LINE-1 and SINE Retrotransposons on Mammalian Genomes.Microbiology spectrum · 2015Review
- Identification of a novel nonsynonymous mutation of EYA1 disrupting splice site in a Korean patient with BOR syndrome.Molecular biology reports · 2014Article
- SVA retrotransposon insertion-associated deletion represents a novel mutational mechanism underlying large genomic copy number changes with non-recurrent breakpoints.Genome biology · 2014Article
- Mutational analysis of EYA1, SIX1 and SIX5 genes and strategies for management of hearing loss in patients with BOR/BO syndrome.PloS one · 2013Article
- Active human retrotransposons: variation and disease.Current opinion in genetics & development · 2012Review
- Modes of retrotransposition of long interspersed element-1 by environmental factors.Frontiers in microbiology · 2012Article
- Review
- L1 hybridization enrichment: a method for directly accessing de novo L1 insertions in the human germline.Human mutation · 2011Article
- LINE-1 elements in structural variation and disease.Annual review of genomics and human genetics · 2011Review
- Article
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Authors and funding
12 authors at 7 institutions in 2 countries.
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No grant is acknowledged in the PubMed record.
Abstract
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.
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