Phenotypic consequences in a Japanese family having branchio-oto-renal syndrome with a novel frameshift mutation in the gene EYA1
Phenotypic consequences in a Japanese family having branchio-oto-renal syndrome with a novel frameshift mutation in the gene EYA1
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DOI：
10.1080/00016480500527185
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发表时间：
2007-01-01
影响因子：
1.4
通讯作者：
Okuyama, Torayuki
中科院分区：
文献类型：
--
作者：
Matsunaga, Tatsuo;Okada, Michiyo;Okuyama, Torayuki
Branchio-oto-Renal(Bor)综合征是一种常染色体显性遗传性疾病，其特征是伴有听力障碍的耳部畸形、鳃瘘管或囊肿以及肾脏畸形。基因EYA1的突变被发现与大约40%的受试者的Bor综合征有关。在这里，我们报告了一个与EYA1移码突变相关的Bor综合征日本家庭。该突变名为1667-1668insT，此前未见报道，也是该基因第16外显子的第一个移码突变。我们描述了这些家庭成员的详细临床特征和医学要点，并基于他们的临床病史，我们认为EYA1突变的基因检测有助于Bor综合征的诊断，有助于为复发提供遗传咨询，为以后可能的肾脏疾病提供预防措施，并影响中耳畸形手术治疗的考虑。
Branchio-oto-renal (BOR) syndrome is an autosomal dominant inherited disorder characterized by malformations of the ear associated with hearing impairment, branchial fistulae or cysts, and renal malformations. Mutations in the gene EYA1 have been found to be responsible for BOR syndrome in approximately 40% of the subjects. Here we report a Japanese family with BOR syndrome associated with a frameshift mutation in EYA1. This mutation, 1667-1668insT, has not been previously reported and is also the first frameshift mutation in exon 16 of this gene. We describe the detailed clinical features and medical highlights of the family members, and based on their clinical histories we propose that genetic testing for EYA1 mutations would contribute to the diagnosis of BOR syndrome, facilitate genetic counseling for recurrence, give precautions regarding possible renal disorders later in life, and impact the consideration of surgical intervention for middle ear anomalies.