Recurrent 8q13.2-13.3 microdeletions associated with Branchio-oto-renal syndrome are mediated by human endogenous retroviral (HERV) sequence blocks

Xiaoli Chen, Jun Wang, Elyse Mitchell, Jin Guo, Liwen Wang, Yu Zhang, Jennelle C. Hodge, Yiping Shen

Research output: Contribution to journalArticlepeer-review

5 Scopus citations

Abstract

Background: Human endogenous retroviral (HERV) sequences are the remnants of ancient retroviral infection and comprise approximately 8% of the human genome. The high abundance and interspersed nature of homologous HERV sequences make them ideal substrates for genomic rearrangements. A role for HERV sequences in mediating human disease-associated rearrangement has been reported but is likely currently underappreciated. Methods and Results: In the present study, two independent de novo 8q13.2-13.3 microdeletion events were identified in patients with clinical features of Branchio-Oto-Renal (BOR) syndrome. Nucleotide-level mapping demonstrated the identical breakpoints, suggesting a recurrent microdeletion including multiple genes such as EYA1, SULF1, and SLCO5A1, which is mediated by HERV1 homologous sequences. Conclusions: These findings raise the potential that HERV sequences may more commonly underlie recombination of dosage sensitive regions associated with recurrent syndromes.

Original languageEnglish (US)
Article number90
JournalBMC medical genetics
Volume15
Issue number1
DOIs
StatePublished - Aug 19 2014

Keywords

  • Branchio-oto-renal syndrome
  • De novo 8q13.2-13.3 microdeletion
  • Human endogenous retroviral (HERV) sequences
  • Mesomelia-synostoses syndrome

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Fingerprint Dive into the research topics of 'Recurrent 8q13.2-13.3 microdeletions associated with Branchio-oto-renal syndrome are mediated by human endogenous retroviral (HERV) sequence blocks'. Together they form a unique fingerprint.

Cite this