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Article

Novel EYA1 variants causing Branchio-oto-renal syndrome.

International journal of pediatric otorhinolaryngology - 1 Jul 2017

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

Abstract excerpt

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...

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Identifiers

PMID: 28583505
DOI: 10.1016/j.ijporl.2017.04.037
PMCID: PMC5516569

Genes

EYA1
SIX1
SIX5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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