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Clinical phenotype and the lack of mutations in the CHRNG, CHRND, and CHRNA1 genes in two Indian families with Escobar syndrome

Kodaganur, Srinivas G and Tontanahal, Sagar J and Sarda, Astha and Shah, Mohd H and Bhat, Vishwanath and Kumar, Arun (2013) Clinical phenotype and the lack of mutations in the CHRNG, CHRND, and CHRNA1 genes in two Indian families with Escobar syndrome. In: Clinical Dysmorphology, 22 (2). pp. 54-58.

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Official URL: http://dx.doi.org/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. Clin Dysmorphol 22:54-58 (C) 2013 Wolters Kluwer Health vertical bar Lippincott Williams & Wilkins.

Item Type: Journal Article
Publication: Clinical Dysmorphology
Publisher: Lippincott Williams & Wilkins
Additional Information: Copyright of this article belongs to Lippincott Williams & Wilkins.
Keywords: CHRNA1; CHRND; CHRNG; Escobar Syndrome; Indian Families; Multiple Pterygium Syndrome
Department/Centre: Division of Biological Sciences > Molecular Reproduction, Development & Genetics
Date Deposited: 10 Apr 2013 10:28
Last Modified: 12 Apr 2013 06:26
URI: http://eprints.iisc.ac.in/id/eprint/46298

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