井藤　奈央子
   Department   School of Medicine(Tokyo Women's Medical University Hospital), School of Medicine
   Position   Assistant Professor
Article types Original article
Language English
Peer review Peer reviewed
Title Clinically diverse phenotypes and genotypes of patients with branchio-oto-renal syndrome.
Journal Formal name：Journal of human genetics
Abbreviation：J Hum Genet
ISSN code：1435232X/14345161
Domestic / ForeginForegin
Volume, Issue, Page 63(5),pp.647-656
Author and coauthor Unzaki Ai, Morisada Naoya, Nozu Kandai, Ye Ming Juan, Ito Shuichi, Matsunaga Tatsuo, Ishikura Kenji, Ina Shihomi, Nagatani Koji, Okamoto Takayuki, Inaba Yuji, Ito Naoko, Igarashi Toru, Kanda Shoichiro, Ito Ken, Omune Kohei, Iwaki Takuma, Ueno Kazuyuki, Yahata Mayumi, Ohtsuka Yasufumi, Nishi Eriko, Takahashi Nobuya, Ishikawa Tomoaki, Goto Shunsuke, Okamoto Nobuhiko, Iijima Kazumoto
Publication date 2018/05
Summary Branchio-oto-renal (BOR) syndrome is a rare autosomal dominant disorder characterized by branchiogenic anomalies, hearing loss, and renal anomalies. The aim of this study was to reveal the clinical phenotypes and their causative genes in Japanese BOR patients. Patients clinically diagnosed with BOR syndrome were analyzed by direct sequencing, multiplex ligation-dependent probe amplification (MLPA), array-based comparative genomic hybridization (aCGH), and next-generation sequencing (NGS). We identified the causative genes in 38/51 patients from 26/36 families; EYA1 aberrations were identified in 22 families, SALL1 mutations were identified in two families, and SIX1 mutations and a 22q partial tetrasomy were identified in one family each. All patients identified with causative genes suffered from hearing loss. Second branchial arch anomalies, including a cervical fistula or cyst, preauricular pits, and renal anomalies, were frequently identified (>60%) in patients with EYA1 aberrations. Renal hypodysplasia or unknown-cause renal insufficiency was identified in more than half of patients with EYA1 aberrations. Even within the same family, renal phenotypes often varied substantially. In addition to direct sequencing, MLPA and NGS were useful for the genetic analysis of BOR patients.
DOI 10.1038/s10038-018-0429-8
PMID 29500469