title: Clinical phenotype and the lack of mutations in the CHRNG, CHRND, and CHRNA1 genes in two Indian families with Escobar syndrome.
abstract: 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.
authors: Department of Pediatrics, Bangalore Medical College and Research Institute Department of Molecular Reproduction, Development and Genetics, Indian Institute of Science, Bangalore, India.
authors: Srinivas G
authors: SG
authors: Kodaganur
authors: Sagar J
authors: SJ
authors: Tontanahal
authors: Astha
authors: A
authors: Sarda
authors: Mohd H
authors: MH
authors: Shah
authors: Vishwanath
authors: V
authors: Bhat
authors: Arun
authors: A
authors: Kumar
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D056426:Genetic Loci; D020022:Genetic Predisposition to Disease; D006801:Humans; D007194:India; D007223:Infant; D007438:Introns; D008297:Male; D008305:Malignant Hyperthermia / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D011950:Receptors, Cholinergic / Q000235:genetics*; D011978:Receptors, Nicotinic / Q000235:genetics*; D012868:Skin Abnormalities / Q000235:genetics*; D055815:Young Adult
chemical_list: C523021:CHRNA1 protein, human; C514767:CHRND protein, human; C539275:CHRNG protein, human; D011950:Receptors, Cholinergic; D011978:Receptors, Nicotinic