イトウ　ナオコ   井藤　奈央子    所属   医学部 医学科（東京女子医科大学病院）    職種   助教
論文種別	原著
言語種別	英語
査読の有無	査読あり
表題	Clinically diverse phenotypes and genotypes of patients with branchio-oto-renal syndrome.
掲載誌名	正式名：Journal of human genetics 略　 称：J Hum Genet ISSNコード：1435232X/14345161
掲載区分	国外
巻・号・頁	63(5),pp.647-656
著者・共著者	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
発行年月	2018/05
概要	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