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.
aDepartment of Pediatrics, Bangalore Medical College and Research Institute
bDepartment of Molecular Reproduction, Development and Genetics, Indian Institute of Science, Bangalore, India
Correspondence to Arun Kumar, PhD, Department of Molecular Reproduction, Development and Genetics, Indian Institute of Science, Bangalore 560012, India Tel: +91 80 2293 2998; fax: +91 80 2360 0999; e-mail: firstname.lastname@example.org
Received September 30, 2011
Accepted January 30, 2013