
Point Mutations in Muscle Segment Homeobox 1 (MSX1) Gene in an Individual with Mandibular Retrognathia: A Case Report
Correspondence Address :Anirban Chakraborty,
Division of Molecular Genetics and Cancer, Nitte University Centre for Science Education and Research (NUCSER), Paneer Campus, Kotekar-Beeri Road,
Nitte (Deemed to be University), Deralakatte, Mangaluru, Karnataka, India.
E-mail: anirban@nitte.edu.in
Malocclusion is an orofacial anomaly that manifests in the form of misaligned dental arches. Mandibular retrognathia is a type of malocclusion, characterised by defective mandibular bone growth. Muscle Segment Homeobox (MSX) gene family, plays an essential role during embryonic development by coordinating processes that decide the patterning and morphogenesis of tissues. Expression of MSX1 and MSX2 genes in the maxilla, mandible and the mesenchymal cells of cephalic neural crest strongly suggest their role in craniofacial development. Here, point mutations (T8I, P11S and A68V) in the coding region of MSX1 gene in a 20-yearold male patient with severe mandibular retrognathia was reported. To date, there has been no report on the association of MSX genes with mandibular anomalies. Evaluating, the significance of these novel mutations through functional studies in animal models will lead to a better understanding of the role of MSX genes in mandibular morphogenesis.
Craniofacial development, Malocclusion, Misaligned dental arches
10.7860/JCDR/2020/46597.14361
Date of Submission: Sep 04, 2020
Date of Peer Review: Oct 19, 2020
Date of Acceptance: Nov 12, 2020
Date of Publishing: Dec 15, 2020
AUTHOR DECLARATION:
• Financial or Other Competing Interests: As declared above
• Was informed consent obtained from the subjects involved in the study? Yes
• For any images presented appropriate consent has been obtained from the subjects. Yes
PLAGIARISM CHECKING METHODS:
• Plagiarism X-checker: Sep 09, 2020
• Manual Googling: Nov 05, 2020
• iThenticate Software: Dec 12, 2020 (18%)
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