Kim Sung Hee, Shin Jong-Hun, Yeo Chang-Ki, Chang Soon Hee, Park Su-Yon, Cho Eun Hae, Ki Chang-Seok, Kim Jong-Won
Department of Otolaryngology, Daegu Fatima Hospital, Daegu, Republic of Korea.
Int J Pediatr Otorhinolaryngol. 2005 Aug;69(8):1123-8. doi: 10.1016/j.ijporl.2005.03.003. Epub 2005 Apr 8.
The branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by the association of branchial cysts or fistulae, external ear malformation and/or preauricular pits, hearing loss, and renal anomalies. Mutations in the EYA1 gene on the chromosome band 8q13.3, the human homologue of the Drosophila eyes absent (eya) gene, have been identified to be the underlying genetic defects of the syndrome. We found a Korean family with BOR syndrome and identified a novel insertion mutation (c.1474_1475insC; R492PfsX40) in the EYA1 gene. To the best of our knowledge, this is the first report of genetically confirmed case of BOR syndrome in Korea.
鳃-耳-肾（BOR）综合征是一种常染色体显性疾病，其特征为鳃裂囊肿或瘘管、外耳畸形和/或耳前凹、听力损失以及肾脏异常同时出现。位于8号染色体13.3带的EYA1基因发生突变，该基因是果蝇无眼（eya）基因的人类同源基因，已被确定为该综合征的潜在遗传缺陷。我们发现了一个患有BOR综合征的韩国家庭，并在EYA1基因中鉴定出一种新的插入突变（c.1474_1475insC；R492PfsX40）。据我们所知，这是韩国首例经基因确诊的BOR综合征病例报告。
