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

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dc.contributor.authorVural, Hasibe
dc.contributor.authorAvci, Ebru
dc.contributor.authorEroglu, Canan
dc.contributor.authorCinar, Ilknur
dc.contributor.authorYarar, Serhat
dc.contributor.authorGundeslioglu, Ozlem
dc.date.accessioned2024-02-23T14:40:45Z
dc.date.available2024-02-23T14:40:45Z
dc.date.issued2020
dc.departmentNEÜen_US
dc.description.abstractAim: 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.en_US
dc.identifier.doi10.4328/ACAM.6205
dc.identifier.endpage158en_US
dc.identifier.issn2667-663X
dc.identifier.issue2en_US
dc.identifier.startpage155en_US
dc.identifier.urihttps://doi.org/10.4328/ACAM.6205
dc.identifier.urihttps://hdl.handle.net/20.500.12452/16562
dc.identifier.volume11en_US
dc.identifier.wosWOS:000572683300016en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.language.isoenen_US
dc.publisherBayrakol Medical Publisheren_US
dc.relation.ispartofAnnals Of Clinical And Analytical Medicineen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectHoxd13en_US
dc.subjectMissense Mutationen_US
dc.subjectNext-Generation Sequencingen_US
dc.subjectPolydactylyen_US
dc.titleA novel missense mutation that may be associated with the polydactyly in the HOXD13 gene: Q241Hen_US
dc.typeArticleen_US

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