A novel heterozygous TPM2 gene mutation (c.456G>C; p.Lys152Asn) in an Iranian family affected by distal arthrogryposis type 1: a case report

Abstract

Abstract Background Distal arthrogryposis (DA) is a group of clinically and genetically heterogeneous disorders characterized by congenital contractures of the distal limb joints without a neuromuscular disease. This case study seeks to report an affected son from an Iranian family with a diagnosis of DA1 with a rare causative genetic defect. Case presentation Herein, we aimed to figure out the underlying genetic of the subject from an Iranian family with DA1. Whole-exome sequencing (WES) of all known DA1 genes was carried out in the proband of the family. WES identified a novel missense mutation, c.456G>C; p.Lys152Asn, within the TPM2 gene, causing a change in one amino acid (Lysine converted to Asparagine). Moreover, this detected variant was confirmed by Sanger sequencing. Conclusion Our data expand the mutational spectra of TPM2 gene associated DA1 which is vital for screening and genetic diagnosis of the disease. Also, this detected mutation has not yet been described in patients with the DA1 phenotype.

Keywords

• TPM2 gene
• Distal arthrogryposis type 1
• Mutation