Abstract
Micrognathia is a common craniofacial deformity which represents hypoplastic development of the mandible, accompanied by retrognathia and consequent airway problems. Usually, micrognathia is accompanied by multiple systematic defects, known as syndromic micrognathia, and is in close association with genetic factors. Now, large quantities of pathogenic genes of syndromic micrognathia have been revealed. However, how these different pathogenic genes could lead to similar phenotypes, and whether there are some common characteristics among these pathogenic genes are still unknown. In this study, we proposed a genetic-phenotypic classification of syndromic micrognathia based on pathogenic genes information obtained from Phenolyzer, DAVID, OMIM, and PubMed database. Pathogenic genes of syndromic micrognathia could be divided into four groups based on gene function, including cellular processes and structures, cell metabolism, cartilage and bone development, and neuromuscular function. In addition, these four groups exhibited various clinical characteristics, and the affected systems, such as central nervous system, skeletal system, cardiovascular system, oral and dental system, respiratory system and muscle, were different in these four groups. This classification could provide meaningful insights into the pathogenesis of syndromic micrognathia, and offer some clues for understanding the molecular mechanism, as well as guiding precise clinical diagnosis and treatment for syndromic micrognathia.
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Acknowledgements
The study is supported by The National Natural Science Foundation of China (No. 81741028), Shanghai Jiaotong University Joint Foundation of Medicine and Engineering (No. YG2016MS08).
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QC, YZ, YQ, CL, GS, and JD contributed to conception and design, drafted and critically revised the manuscript. GS and JD gave final approval and ensured that questions relating to the accuracy or integrity of any part of the work are appropriately investigated and resolved.
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Chen, Q., Zhao, Y., Qian, Y. et al. A genetic-phenotypic classification for syndromic micrognathia. J Hum Genet 64, 875–883 (2019). https://doi.org/10.1038/s10038-019-0630-4
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DOI: https://doi.org/10.1038/s10038-019-0630-4
