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Expression of DLX6 Gene in Mandibular Deficiency (Retrognathic Mandible): A Randomized Clinical and Genetic Study.

ABSTRACT: Introduction There are various genes that affect craniofacial development and among the important genes that affect jaw development is distal-less homeobox (DLX) 6 genes. The present study was carried out to determine the role of DLX6 gene variations in mandibular deficiency. Methods Thirty subjects having retrognathic mandible were evaluated by clinical examination and assessed using lateral cephalometric radiographs based on cephalometrics for orthognathic surgery (COGS) analysis of hard tissue with N-Pog parameters being less than -13 mm. For the same subjects, saliva samples were taken and sent to biotechnology labs for genetic evaluation. DNA was isolated from salivary samples using a DNA extraction kit and was subjected to polymerase chain reaction (PCR) amplification and sequencing. Single nucleotide polymorphisms (SNP) analysis was done to assess the role of DLX6 gene in these study subjects. Results All 30 subjects showed N-POG parameters of COGS analysis for hard tissue to be less than -13mm, confirming retrognathic mandible. SNP analysis of subjects showed no SNPs in any EXON of the DLX6 gene for all 30 study samples. Conclusion No variations in DLX6 gene were found in the present study. Further studies are required to investigate other genes that could be involved in the cause of retrognathic mandible with a larger sample size and to include subjects in the sample having features other than mandibular retrognathia like hearing loss, abnormal pinnae, ectrodactyly, cleft palate, developmental delay and abnormal teeth to determine the contribution of DLX6 gene variations in mandibular deficiency.

SUBMITTER: S J R

PROVIDER: S-EPMC8008976 | biostudies-literature |

REPOSITORIES: biostudies-literature

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Project description:To analyze the morphology of paired fibula and mandible aiming to choose optimal fibular segments for mandibular reconstruction in a Chinses population. A total of 118 cases of paired mandible and fibula was collected. All patients were received preoperative cone beam CT (CBCT) scans for mandibular evaluation and CT-angiographical (CTA) examination of the bilateral lower legs, respectively. The cross-sectional morphological differences between proximal (Side P), middle (Side M) and distal (Side D) segments of fibula and anterior, premolar and molar areas of mandible were compared. The most frequent cross-sectional shape at Side D, Side M and Side P portion of fibula was circular (75.4%), triangular (67.8%) and circular (49.2%), respectively. In anterior, premolar and molar areas of mandible, the most of the cross-section was s-shape (90.82%), straight (83.64%) and oblique (91.89%), respectively. The height and width of upper one third (W1) at Side M were significantly larger than those of Side D and Side P (p < 0.0001). There was significantly difference of width of lower one third (W2) among three groups (p < 0.0001). As for the height and widths of mandible, there was significant difference among anterior, premolar and molar regions (p < 0.0001). The rate of height between Side M of fibula and mandible (H (Side M/area)) was significantly larger than H (Side D/area) and H (Side P/area) (p < 0.01). The ratio of W1 between Side D of fibula and mandible (W1 (Side D/area)) was significantly larger than that of W1 (Side M/area) and W1 (side P/area) (p < 0.05). As for the ratio of W2 between fibula and mandible (W2 (plane/area)), there was significant difference among groups (p < 0.01). The distal and middle segments of fibula were suitable for reconstructing the anterior area of mandible and the proximal segment of fibula was more compatible with the premolar and molar areas of mandible.Clinical Relevance Presurgical morphometric analysis of paired fibula and mandible aids for optimal fibular-based mandibular reconstruction.

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Expression of DLX6 Gene in Mandibular Deficiency (Retrognathic Mandible): A Randomized Clinical and Genetic Study.

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