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Kar, Anjana and Phadke, S.R. and Das Bhowmik, A. and Dalal, Ashwin (2018) Whole exome sequencing reveals a mutation in ARMC9 as a cause of mental retardation, ptosis, and polydactyly. American Journal of Medical Genetics Part A, 176 (1). pp. 34-40. ISSN 1552-4825

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Intellectual disability (ID) refers to deficits in mental abilities, social behavior, and motor skills to perform activities of daily living as compared to peers. Numerous genetic and environmental factors may be responsible for ID. We report on elucidation of molecular basis for syndromic ID associated with ptosis, polydactyly, and MRI features suggestive of Joubert syndrome using homozygosity mapping followed by exome sequencing. The analysis revealed a novel synonymous variation p.T293T (c.879G>A) which leads to a splicing defect in ARMC9 gene. The variant is present in conserved region of ARM domain of ARMC9 protein, which is predicted to form a platform for protein interaction. This domain is likely to be altered in patient due to splicing defect caused by this synonymous variation. Our report of variant in ARMC9 Leading to Joubert syndrome phenotype (JS30), elucidates the genetic heterogeneity of Joubert syndrome, and expands the gene list for ciliopathies.

Item Type: Article
Depositing User: Dr P Divakar
Date Deposited: 24 Nov 2017 12:03
Last Modified: 26 Apr 2018 19:28
URI: http://cdfd.sciencecentral.in/id/eprint/812

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