A novel missense mutation that may be associated with the polydactyly in the HOXD13 gene: Q241H

Abstract

A missense mutation in HOXD13: Q241HA novel missense mutation that may be associated with the polydactyly in the HOXD13 gene: Q241H Abstract Aim: HOX gene cluster which is termed as architectural genes and affects the expression of certain genes on DNA are effective in the development of limb.Therefore, mutations are observed in HOX genes, particularly HOXD13, lead to various congenital limb malformations. In this context, it was aimed to determine the expression level of HOXD13 gene and screening of HOXD13 mutations in patients with congenital lower/upper limb malformations who applied to Clinic of Plastic Reconstructive and Aesthetic Surgery of Meram Faculty of Medicine Hospital in this study. Material and Method: The case group of the study was composed of 20 unrelated patients with congenital lower/upper limb malformations and the control group was composed of 20 healthy individuals. Mutation analysis was performed using NGS and Sanger sequencing methods. The expression level of the HOXD13 gene was determined by the qPCR. Results:According to the qPCR results, in the case group, a 3.43 fold decrease was observed in the expression of HOXD13 gene when compared with the control group.However, this result was not statistically significant. According to NGS and Sanger sequencing results, a 723G> T variation that could lead to amino acid changes (Q241H) and could be defined as a missense mutation was detected in a patient. Discussion: 723G> T variation observed in a patient with a polydactyly anomaly was found in the patient's mother. However, more detailed studies are needed to assess this variation, which are not found in the literature, as a missense mutation in HOXD13 associated with polydactyly.