Kumar S, Deffenbacher K, Cremers C W, Van Camp G, Kimberling W J
Department of Genetics, Boys Town National Research Hospital, Omaha, NE 68131, USA.
Genet Test. 1997;1(4):243-51. doi: 10.1089/gte.1997.1.243.
The branchio-oto-renal syndrome (BOR) is an autosomal dominant disorder characterized by branchial clefts, preauricular sinuses, hearing loss, and renal anomalies. The BOR gene, EYA1, on chromosome 8q13 has recently been cloned and mutations have been identified. In this study, we have analyzed the sites of mutations in the EYA1 gene in BOR patients to determine the spectrum of mutations. We have identified two missense mutations and have compared all the mutations reported to date in the EYA1 gene. In total, 20 mutations have been described, the majority of which are clustered in the carboxy-terminal region of the gene. The clinical features of the BOR individuals have also been compared to determine if the nature of the mutation correlates with the type and severity of the clinical symptoms. Most of the mutations arose de novo and, other than the clustering in carboxy-terminal exons 9-16, no mutation hot spots have been identified. These results provide the basis for molecular genetic testing that will help in the clinical evaluation and genetic counseling of members of BOR families.
鳃耳肾综合征（BOR）是一种常染色体显性疾病，其特征为鳃裂、耳前窦、听力丧失和肾脏异常。位于8号染色体q13的BOR基因EYA1最近已被克隆并鉴定出突变。在本研究中，我们分析了BOR患者EYA1基因的突变位点，以确定突变谱。我们鉴定出两个错义突变，并比较了迄今为止报道的EYA1基因的所有突变。总共描述了20种突变，其中大多数集中在该基因的羧基末端区域。我们还比较了BOR个体的临床特征，以确定突变性质是否与临床症状的类型和严重程度相关。大多数突变是从头产生的，除了集中在羧基末端外显子9 - 16外，未发现突变热点。这些结果为分子遗传学检测提供了基础，有助于对BOR家族成员进行临床评估和遗传咨询。
