Kodaganur Srinivas G, Tontanahal Sagar J, Sarda Astha, Shah Mohd H, Bhat Vishwanath, Kumar Arun
Department of Pediatrics, Bangalore Medical College and Research Institute Department of Molecular Reproduction, Development and Genetics, Indian Institute of Science, Bangalore, India.
Clin Dysmorphol. 2013 Apr;22(2):54-58. doi: 10.1097/MCD.0b013e32835f9ac0.
The objective of this study was to report the clinical phenotype and genetic analysis of two Indian families with Escobar syndrome (ES). The diagnosis of ES in both families was made on the basis of published clinical features. Blood samples were collected from members of both families and used in genomic DNA isolation. The entire coding regions and intron-exon junctions of the ES gene CHRNG (cholinergic receptor, nicotinic, gamma), and two other related genes, CHRND and CHRNA1, were amplified and sequenced to search for mutations in both families. Both families show a typical form of ES. Sequencing of the entire coding regions including the intron-exon junctions of the three genes did not yield any mutations in these families. In conclusion, it is possible that the mutations in these genes are located in the promoter or deep intronic regions that we failed to identify or the ES in these families is caused by mutations in a different gene. The lack of mutations in CHRNG has also been reported in several families, suggesting the possibility of at least one more gene for this syndrome.
本研究的目的是报告两个患有埃斯科巴综合征（ES）的印度家庭的临床表型和基因分析。两个家庭中ES的诊断均基于已发表的临床特征。从两个家庭的成员采集血样，并用于基因组DNA分离。对ES基因CHRNG（胆碱能受体，烟碱型，γ）以及另外两个相关基因CHRND和CHRNA1的整个编码区和内含子-外显子连接区进行扩增和测序，以寻找两个家庭中的突变。两个家庭均表现出典型的ES形式。对这三个基因的包括内含子-外显子连接区在内的整个编码区进行测序，在这些家庭中未发现任何突变。总之，这些基因的突变可能位于我们未能识别的启动子或内含子深部区域，或者这些家庭中的ES是由不同基因的突变引起的。在几个家庭中也报道了CHRNG基因不存在突变，这表明该综合征至少还有一个基因存在的可能性。
