• Daniz Kooshavar, Masoumeh Razipour, Morteza Movasat, and Mohammad Keramatipour.
• Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
• Int. J. Pediatr. Otorhinolaryngol. 2018 Jan 1; 104: 10-13.

BackgroundUsher syndrome (USH) is characterized by congenital hearing loss and retinitis pigmentosa (RP) with a later onset. It is an autosomal recessive trait with clinical and genetic heterogeneity which makes the molecular diagnosis much difficult. In this study, we introduce a pedigree with two affected members with USH type 1 and represent a cost and time effective approach for genetic diagnosis of USH as a genetically heterogeneous disorder.MethodsTarget region capture in the genes of interest, followed by next generation sequencing (NGS) was used to determine the causative mutations in one of the probands. Then segregation analysis in the pedigree was conducted using PCR-Sanger sequencing.ResultsTargeted NGS detected a novel homozygous nonsense variant c.4513G > T (p.Glu1505Ter) in MYO7A. The variant is segregating in the pedigree with an autosomal recessive pattern.ConclusionIn this study, a novel stop gained variant c.4513G > T (p.Glu1505Ter) in MYO7A was found in an Iranian pedigree with two affected members with USH type 1. Bioinformatic as well as pedigree segregation analyses were in line with pathogenic nature of this variant. Targeted NGS panel was showed to be an efficient method for mutation detection in hereditary disorders with locus heterogeneity.Copyright © 2017 Elsevier B.V. All rights reserved.

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