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Das Bhowmik, A. and Dalal, Ashwin and Matta, D. and Sundaram, C. and Aggarwal, Shagun (2016) Targeted Next Generation Sequencing Identifies a Novel Deletion in LAMA2 Gene in a Merosin Deficient Congenital Muscular Dystrophy Patient. Indian Journal of Pediatrics, 83 (4). pp. 354-355. ISSN 0019-5456

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Abstract

The congenital muscular dystrophies (CMDs) are a heterogeneous group of heritable muscle disorders which are challenging to diagnose due to overlapping and inconclusive muscle pathology. The molecular diagnostic approach of serial Sanger Sequencing of suspected CMD genes is being superseded by a comprehensive panel test for simultaneous screening of mutations in all known CMD-associated genes using targeted next generation sequencing (NGS) approach. Here we present a case of merosin deficient CMD (OMIM 607855) in which targeted NGS of all known CMD-associated candidate genes was used to identify the causative mutation as a novel exon 50 deletion in LAMA2 gene. This case illustrates the utility of targeted gene panel sequencing in molecular diagnosis of a known disorder due to its highly automated nature, cost effectiveness and wider availability as compared to conventional techniques.

Item Type: Article
Depositing User: Dr P Divakar
Date Deposited: 20 Jul 2015 06:46
Last Modified: 24 Feb 2017 08:01
URI: http://cdfd.sciencecentral.in/id/eprint/262

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