A novel missense mutation in PLEKHG5 gene causing an intermediate form of autosomal-recessive Charcot–Marie–Tooth disease in an Iraqi family

Abstract

Abstract Background Charcot–Marie–Tooth disease comprises a large spectrum of clinically heterogeneous disorders. PLEKHG5 variants have shown an intermediate form of autosomal-recessive Charcot–Marie–Tooth disease C and distal spinal muscular atrophy IV. The purpose of this case study is to report a causative genetic defect associated with intermediate form of autosomal-recessive Charcot–Marie–Tooth disease C in an Iraqi consanguineous family. Case presentation Whole-exome and Sanger sequencing was used to identify probable gene defects in a 9-year-old male affected by CMTRIC. We found a new single mutation (c.1844C > A; p.T615N) in the PLEKHG5 gene, located in exon 17 (NM_020631.6), causing a missense mutation that has been changed one amino acid. The mutation was homozygous in the patient and heterozygous in his parents. Conclusion Our results expand the PLEKHG5 pathogenic mutation spectrum related to intermediate form of autosomal-recessive Charcot–Marie–Tooth disease C which is vital for screening and genetic diagnosis of the disease.