Exploration of genetic factors determining cleft side in a pair of monozygotic twins with mirror-image cleft lip and palate using whole-genome sequencing and comparison of craniofacial morphology |
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| Institution: | 1. Department of Orthodontics, School of Dentistry, Showa University, Tokyo, Japan;2. Department of Bioinformatics and Genomics, Graduate School of Advanced Preventive Medical Sciences, Kanazawa University, Ishikawa, Japan;3. Center for Craniofacial and Dental Genetics, Department of Oral Biology, University of Pittsburgh, Pittsburgh, PA, USA;4. Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA;5. Clinical and Translational Science Institute, School of Medicine, University of Pittsburgh, Pittsburgh, PA, USA;6. Department of Psychiatry, School of Medicine, University of Pittsburgh, Pittsburgh, PA, USA;7. Department of Anthropology, University of Pittsburgh, Pittsburgh, PA, USA;1. Department of Pulp Biology and Endodontics, Kanagawa Dental University, Yokosuka, Kanagawa 238-8580, Japan;2. Department of Endodontics, Nihon University School of Dentistry at Matsudo, Matsudo, Chiba 271-8587, Japan;3. Division of Pathology, Department of Oral Diagnostic Sciences, School of Dentistry, Showa University, Shinagawa-ku, Tokyo 142-8555, Japan;4. Laboratory of Veterinary Biochemistry, Nihon University College of Bioresource Sciences, Fujisawa, Kanagawa 252-0880, Japan;5. Department of Oral Surgery, Nihon University School of Dentistry at Matsudo, Matsudo, Chiba 271-8587, Japan;6. Research Institute of Oral Science, Nihon University School of Dentistry at Matsudo, Matsudo, Chiba 271-8587, Japan;1. Dental Research Center, Dentistry Research Institute/Department of Dental Biomaterials, School of Dentistry, Tehran University of Medical Sciences, Tehran, Iran;2. Reproductive Biotechnology Research Centre, Avicenna Research Institute, ACECR, Tehran, Iran;3. Department of Dental Biomaterials, School of Dentistry/Research Center for Science and Technology in Medicine, Tehran University of Medical Sciences, Tehran, Iran;4. Nanobiotechnology Research Centre, Avicenna Research Institute, ACECR, Tehran, Iran;1. Department of Neurosurgery, Cleveland Clinic, Cleveland, Ohio, USA;2. Rose Ella Burkhart Brain Tumor and Neuro-Oncology Center, Cleveland Clinic, Cleveland, Ohio, USA;3. Department of Anesthesiology, Cleveland Clinic, Cleveland, Ohio, USA;1. Department of Pediatrics, Division of Allergy and Immunology, Warren Alpert Medical School of Brown University, Rhode Island Hospital, Providence, Rhode Island;2. Department of Psychology, Virginia Commonwealth University, Richmond, Virginia;3. Department of Psychiatry, Division of Child Psychiatry, Warren Alpert Medical School of Brown University, Rhode Island Hospital, Providence, Rhode Island |
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| Abstract: | ObjectiveThe aim of the present study is to explore genetic factors determining difference of cleft side using whole-genome sequencing and evaluation of craniofacial morphology using cephalometric analysis between Japanese monozygotic (MZ) twins with mirror-image cleft lip and palate (CLP).DesignWe selected a Japanese MZ twin pair (MZ-A and MZ-B) affected with unilateral CLP who are discordant for cleft side (left/right) and conducted whole-genome sequencing to identify genetic factors determining cleft side. Moreover, we compared their craniofacial morphologies using cephalograms.ResultsWhole-genome sequencing results suggested that no discordant DNA variants were found between MZ-A and MZ-B. The comparison of craniofacial morphology between the MZ twins revealed that MZ-B had maxillary deficiency and slightly more mandibular protrusion than MZ-A.ConclusionsIt is indicated that environmental factors might be a critical factor that influences the determination of difference of cleft side in orofacial clefts. In addition, we found some differences in craniofacial morphology between MZ-A and MZ-B. Our findings suggest that various environmental factors, such as epigenetics, might be a critical factor that influences the determination of difference of cleft side in CLP rather than inherited genetic factors. |
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| Keywords: | Cleft lip and palate Mirror-image asymmetry Monozygotic twin discordancy Whole-genome sequencing Craniofacial morphology Cleft laterality |
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