Novel EYA1 variants causing Branchio-oto-renal syndrome

Kyle D. Klingbeil, Christopher M. Greenland, Selcuk Arslan, Arianne Llamos Paneque, Hakan Gurkan, Selma Demir Ulusal, Reza Maroofian, Andrea Carrera-Gonzalez, Stefany Montufar-Armendariz, Rosario Paredes, Nursel Elcioglu, Ibis Menendez, Mahdiyeh Behnam, Joseph Foster, Shengru Guo, Sebastian Escarfuller, Filiz Basak Cengiz, Duygu Duman, Guney Bademci, Mustafa Tekin

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

Introduction Branchio-oto-renal (BOR) syndrome is an autosomal dominant genetic disorder characterized by second branchial arch anomalies, hearing impairment, and renal malformations. Pathogenic mutations have been discovered in several genes such as EYA1, SIX5, and SIX1. However, nearly half of those affected reveal no pathogenic variant by traditional genetic testing. Methods and materials Whole Exome sequencing and/or Sanger sequencing performed in 10 unrelated families from Turkey, Iran, Ecuador, and USA with BOR syndrome in this study. Results We identified causative DNA variants in six families including novel c.525delT, c.979T > C, and c.1768delG and a previously reported c.1779A > T variants in EYA1. Two large heterozygous deletions involving EYA1 were detected in additional two families. Whole exome sequencing did not reveal a causative variant in the remaining four families. Conclusions A variety of DNA changes including large deletions underlie BOR syndrome in different populations, which can be detected with comprehensive genetic testing.

Original languageEnglish (US)
Pages (from-to)59-63
Number of pages5
JournalInternational Journal of Pediatric Otorhinolaryngology
Volume98
DOIs
StatePublished - Jul 1 2017

Fingerprint

Branchio-Oto-Renal Syndrome
Exome
Genetic Testing
Branchial Region
Ecuador
Inborn Genetic Diseases
DNA
Iran
Turkey
Hearing Loss
Kidney
Mutation
Population
Genes

Keywords

  • Branchial arch anomalies
  • Branchiootorenal syndrome
  • EYA1
  • Hearing loss
  • Whole exome sequencing

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Otorhinolaryngology

Cite this

Klingbeil, K. D., Greenland, C. M., Arslan, S., Llamos Paneque, A., Gurkan, H., Demir Ulusal, S., ... Tekin, M. (2017). Novel EYA1 variants causing Branchio-oto-renal syndrome. International Journal of Pediatric Otorhinolaryngology, 98, 59-63. https://doi.org/10.1016/j.ijporl.2017.04.037

Novel EYA1 variants causing Branchio-oto-renal syndrome. / Klingbeil, Kyle D.; Greenland, Christopher M.; Arslan, Selcuk; Llamos Paneque, Arianne; Gurkan, Hakan; Demir Ulusal, Selma; Maroofian, Reza; Carrera-Gonzalez, Andrea; Montufar-Armendariz, Stefany; Paredes, Rosario; Elcioglu, Nursel; Menendez, Ibis; Behnam, Mahdiyeh; Foster, Joseph; Guo, Shengru; Escarfuller, Sebastian; Cengiz, Filiz Basak; Duman, Duygu; Bademci, Guney; Tekin, Mustafa.

In: International Journal of Pediatric Otorhinolaryngology, Vol. 98, 01.07.2017, p. 59-63.

Research output: Contribution to journalArticle

Klingbeil, KD, Greenland, CM, Arslan, S, Llamos Paneque, A, Gurkan, H, Demir Ulusal, S, Maroofian, R, Carrera-Gonzalez, A, Montufar-Armendariz, S, Paredes, R, Elcioglu, N, Menendez, I, Behnam, M, Foster, J, Guo, S, Escarfuller, S, Cengiz, FB, Duman, D, Bademci, G & Tekin, M 2017, 'Novel EYA1 variants causing Branchio-oto-renal syndrome', International Journal of Pediatric Otorhinolaryngology, vol. 98, pp. 59-63. https://doi.org/10.1016/j.ijporl.2017.04.037
Klingbeil KD, Greenland CM, Arslan S, Llamos Paneque A, Gurkan H, Demir Ulusal S et al. Novel EYA1 variants causing Branchio-oto-renal syndrome. International Journal of Pediatric Otorhinolaryngology. 2017 Jul 1;98:59-63. https://doi.org/10.1016/j.ijporl.2017.04.037
Klingbeil, Kyle D. ; Greenland, Christopher M. ; Arslan, Selcuk ; Llamos Paneque, Arianne ; Gurkan, Hakan ; Demir Ulusal, Selma ; Maroofian, Reza ; Carrera-Gonzalez, Andrea ; Montufar-Armendariz, Stefany ; Paredes, Rosario ; Elcioglu, Nursel ; Menendez, Ibis ; Behnam, Mahdiyeh ; Foster, Joseph ; Guo, Shengru ; Escarfuller, Sebastian ; Cengiz, Filiz Basak ; Duman, Duygu ; Bademci, Guney ; Tekin, Mustafa. / Novel EYA1 variants causing Branchio-oto-renal syndrome. In: International Journal of Pediatric Otorhinolaryngology. 2017 ; Vol. 98. pp. 59-63.
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abstract = "Introduction Branchio-oto-renal (BOR) syndrome is an autosomal dominant genetic disorder characterized by second branchial arch anomalies, hearing impairment, and renal malformations. Pathogenic mutations have been discovered in several genes such as EYA1, SIX5, and SIX1. However, nearly half of those affected reveal no pathogenic variant by traditional genetic testing. Methods and materials Whole Exome sequencing and/or Sanger sequencing performed in 10 unrelated families from Turkey, Iran, Ecuador, and USA with BOR syndrome in this study. Results We identified causative DNA variants in six families including novel c.525delT, c.979T > C, and c.1768delG and a previously reported c.1779A > T variants in EYA1. Two large heterozygous deletions involving EYA1 were detected in additional two families. Whole exome sequencing did not reveal a causative variant in the remaining four families. Conclusions A variety of DNA changes including large deletions underlie BOR syndrome in different populations, which can be detected with comprehensive genetic testing.",
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AU - Klingbeil, Kyle D.

AU - Greenland, Christopher M.

AU - Arslan, Selcuk

AU - Llamos Paneque, Arianne

AU - Gurkan, Hakan

AU - Demir Ulusal, Selma

AU - Maroofian, Reza

AU - Carrera-Gonzalez, Andrea

AU - Montufar-Armendariz, Stefany

AU - Paredes, Rosario

AU - Elcioglu, Nursel

AU - Menendez, Ibis

AU - Behnam, Mahdiyeh

AU - Foster, Joseph

AU - Guo, Shengru

AU - Escarfuller, Sebastian

AU - Cengiz, Filiz Basak

AU - Duman, Duygu

AU - Bademci, Guney

AU - Tekin, Mustafa

PY - 2017/7/1

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N2 - Introduction Branchio-oto-renal (BOR) syndrome is an autosomal dominant genetic disorder characterized by second branchial arch anomalies, hearing impairment, and renal malformations. Pathogenic mutations have been discovered in several genes such as EYA1, SIX5, and SIX1. However, nearly half of those affected reveal no pathogenic variant by traditional genetic testing. Methods and materials Whole Exome sequencing and/or Sanger sequencing performed in 10 unrelated families from Turkey, Iran, Ecuador, and USA with BOR syndrome in this study. Results We identified causative DNA variants in six families including novel c.525delT, c.979T > C, and c.1768delG and a previously reported c.1779A > T variants in EYA1. Two large heterozygous deletions involving EYA1 were detected in additional two families. Whole exome sequencing did not reveal a causative variant in the remaining four families. Conclusions A variety of DNA changes including large deletions underlie BOR syndrome in different populations, which can be detected with comprehensive genetic testing.

AB - Introduction Branchio-oto-renal (BOR) syndrome is an autosomal dominant genetic disorder characterized by second branchial arch anomalies, hearing impairment, and renal malformations. Pathogenic mutations have been discovered in several genes such as EYA1, SIX5, and SIX1. However, nearly half of those affected reveal no pathogenic variant by traditional genetic testing. Methods and materials Whole Exome sequencing and/or Sanger sequencing performed in 10 unrelated families from Turkey, Iran, Ecuador, and USA with BOR syndrome in this study. Results We identified causative DNA variants in six families including novel c.525delT, c.979T > C, and c.1768delG and a previously reported c.1779A > T variants in EYA1. Two large heterozygous deletions involving EYA1 were detected in additional two families. Whole exome sequencing did not reveal a causative variant in the remaining four families. Conclusions A variety of DNA changes including large deletions underlie BOR syndrome in different populations, which can be detected with comprehensive genetic testing.

KW - Branchial arch anomalies

KW - Branchiootorenal syndrome

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KW - Hearing loss

KW - Whole exome sequencing

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