Point Mutations in Muscle Segment Homeobox 1 (MSX1) Gene in an Individual with Mandibular Retrognathia: A Case Report
Published: December 1, 2020 | DOI: https://doi.org/10.7860/JCDR/2020/46597.14361
Dechamma Pandyanda Nanjappa, Murali Patla Shivarama Bhat, Veena Shetty, Krishna Nayak Uppinagadi Shroof, Anirban Chakraborty
1. Research Scholar, Division of Molecular Genetics and Cancer, Nitte University Centre for Science Education and Research (NUCSER), Nitte (Deemed to be University),
Deralakatte, Mangaluru, Karnataka, India.
2. Assistant Professor, Department of Orthodontics and Dentofacial Orthopaedic, AB Shetty Memorial Institute of Dental Sciences, Nitte (Deemed to be University),
Deralakatte, Mangaluru, Karnataka, India.
3. Professor, Department of Microbiology, KS Hedge Medical Academy, Nitte (Deemed to be University), Deralakatte, Mangaluru, Karnataka, India.
4. Professor, Department of Orthodontics, AB Shetty Memorial Institute of Dental Sciences, Nitte (Deemed to be University), Deralakatte, Mangaluru, Karnataka, India.
5. Professor, Division of Molecular Genetics and Cancer, Nitte University Centre for Science Education and Research (NUCSER), Nitte (Deemed to be University),
Deralakatte, Mangaluru, Karnataka, India.
Correspondence
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.
[
FULL TEXT ] | [ PDF]