Two novel mutations in MSX1 causing oligodontia

Autoři: Le Yang aff001;  Jia Liang aff001;  Haitang Yue aff001;  Zhuan Bian aff001
Působiště autorů: The State Key Laboratory Breeding Base of Basic Science of Stomatology (Hubei-MOST) and Key Laboratory of Oral Biomedicine Ministry of Education, School and Hospital of Stomatology, Wuhan University, Wuhan, Hubei Province, China aff001
Vyšlo v časopise: PLoS ONE 15(1)
Kategorie: Research Article


Tooth agenesis is one of the most common developmental anomalies in humans and can affect dental occlusion and speech pronunciation. Research has identified an association between mutations in MSX1, PAX9, EDA, AXIN2, WNT10A, WNT10B and LRP6 and human tooth agenesis. Two unrelated individuals with non-syndromic tooth agenesis and their families were enrolled in this study. Using Sanger sequencing of the candidate genes, we identified two novel mutations: a missense mutation c.572 T>C and a frameshift mutation c.590_594 dup TGTCC, which were both detected in the homeodomain of MSX1. After identifying the mutations, structural modeling and bioinformatics analysis were used to predict the resulting conformational changes in the MSX1 homeodomain. Combined with 3D-structural analysis of other MSX1 mutations, we propose that there is a correlation between the observed phenotypes and alterations in hydrogen bond formation, thereby potentially affecting protein binding.

Klíčová slova:

Dentition – Homeobox – Hydrogen bonding – Insertion mutation – Missense mutation – Mutation databases – Teeth – Frameshift mutation


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