PDF(Pubmed)
Abstract：
Townes-Brocks syndrome is a rare autosomal dominant genetic syndrome caused by mutations in SALL1. The clinical features of Townes-Brocks syndrome are highly heterogonous. Identification of new SALL1 mutations and study of the relation between SALL1 mutations and clinical features can facilitate diagnosis of Townes-Brocks syndrome.
We collected clinical data and blood samples of the two patients and their family members for whole-exome sequencing and Sanger sequencing. Prediction analysis of the SALL1variation protein structure was achieved using Alphafold. The clinical materials and gene sequencing results were analyzed. The clinical materials and gene sequencing results were analyzed. The related literature of Townes-Brocks syndrome were searched and the genotype-renal phenotype analysis was performed combined with this two cases.
Based on the clinical features and gene sequencing results, the two patients were diagnosed as Townes-Brocks syndrome. Two novel SALL1 mutations (c.878-887del and c.1240G > T) were identified, both of which were pathogenic mutations. The correlation between genotypes and renal phenotypes in Townes-Brocks syndrome patients caused by SALL1 mutation were summarized.
This study identified two novel mutations and provided new insights into the correlation of genotypes and renal phenotypes of Townes-Brocks syndrome.
We collected clinical data and blood samples of the two patients and their family members for whole-exome sequencing and Sanger sequencing. Prediction analysis of the SALL1variation protein structure was achieved using Alphafold. The clinical materials and gene sequencing results were analyzed. The clinical materials and gene sequencing results were analyzed. The related literature of Townes-Brocks syndrome were searched and the genotype-renal phenotype analysis was performed combined with this two cases.
Based on the clinical features and gene sequencing results, the two patients were diagnosed as Townes-Brocks syndrome. Two novel SALL1 mutations (c.878-887del and c.1240G > T) were identified, both of which were pathogenic mutations. The correlation between genotypes and renal phenotypes in Townes-Brocks syndrome patients caused by SALL1 mutation were summarized.
This study identified two novel mutations and provided new insights into the correlation of genotypes and renal phenotypes of Townes-Brocks syndrome.
摘要：
背景：Townes-Brocks综合征是一种罕见的由SALL1突变引起的常染色体显性遗传综合征。Townes-Brocks综合征的临床特征是高度异源性的。新的SALL1突变的鉴定以及SALL1突变与临床特征之间关系的研究可以促进Townes-Brocks综合征的诊断。
方法：我们收集了两名患者及其家庭成员的临床数据和血液样本，用于全外显子组测序和Sanger测序。使用Alphafold实现了SALL1变异蛋白质结构的预测分析。剖析临床材料和基因测序成果。剖析临床材料和基因测序成果。检索Townes-Brocks综合征的相关文献,结合2例进行基因型-肾表型分析。
结果：根据临床特征和基因测序结果，这两名患者被诊断为汤斯-布洛克斯综合征。确定了两个新的SALL1突变（c.878-887del和c.1240G>T），两者都是致病性突变。总结了SALL1突变引起的Townes-Brocks综合征患者基因型与肾脏表型的相关性。
结论：这项研究发现了两个新的突变，并为Townes-Brocks综合征的基因型和肾脏表型的相关性提供了新的见解。
方法：我们收集了两名患者及其家庭成员的临床数据和血液样本，用于全外显子组测序和Sanger测序。使用Alphafold实现了SALL1变异蛋白质结构的预测分析。剖析临床材料和基因测序成果。剖析临床材料和基因测序成果。检索Townes-Brocks综合征的相关文献,结合2例进行基因型-肾表型分析。
结果：根据临床特征和基因测序结果，这两名患者被诊断为汤斯-布洛克斯综合征。确定了两个新的SALL1突变（c.878-887del和c.1240G>T），两者都是致病性突变。总结了SALL1突变引起的Townes-Brocks综合征患者基因型与肾脏表型的相关性。
结论：这项研究发现了两个新的突变，并为Townes-Brocks综合征的基因型和肾脏表型的相关性提供了新的见解。
