Chinese Journal of Dental Research

Chin J Dent Res
CN 10-1194/R . ISSN 1462-6446 . eISSN 1867-5646 . Quarterly

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Chin J Dent Res 2024;27(1):47–52; doi:10.3290/j.cjdr.b5128655

Distinctive Craniofacial and Oral Anomalies in MN1 C-terminal Truncation Syndrome

Writer:Jing Jia YU , Qiu Yi WU, Qiu Chi RAN, Ying Ya ZHAO, Lin Nan YU, Qing Xin CAO, Xi Meng CHEN, Wen Yang LI, Zhen Jin ZHAO Clicked:

Objective: To evaluate the use of oral health services, the economic burden of oral diseases and related influential factors in China. Method: Using the multistage, stratified, equal proportion, random sampling method in the 4th National Oral Health Survey of China conducted in 2015 to 2016, residents aged 3 to 5 years, 12 to 15 years, 35 to 44 years, 55 to 64 years, and 65 to 74 years respectively were recruited, clinically examined and answered a questionnaire. Utilisation of oral health services and the economic burden of oral diseases in the past 12 months were assessed in all the age groups. Chi-squared tests, t tests, correlation analysis and a one-way ANOVA were used to determine the relationships between the different factors which were screened from the clinical examination and questionnaires with utilisation of oral health services and the economic burden of oral diseases. Results: In the subject groups 3 to 5 years (5876), 12 to 15 years (27,936) and 35 to 74 years (2708) the prevalence of the utili

MN1 C-terminal truncation (MCTT) syndrome was first reported in 2020 and only 28 patients have been recorded to date. Since MCTT syndrome is a newly defined and rare syndrome with many clinical features, the present study reviewed the manifestations and management of oral and dental anomalies. Gene variants of MCTT syndrome and their positive phenotypes were summarised. The phenotypes of variants in two exons differed from each other mainly in the craniomaxillofacial region, including brain MRI abnormalities and palatal morphology. Pathogenic mechanisms, especially in craniofacial and oral anomalies, were discussed. Appropriate treatments in the stomatology and respiratory departments could improve the symptoms of MCTT syndrome. The different sites of MN1 gene variants may influence the clinical symptoms and there may be racial differences in MCTT syndrome. We recommend oral and pulmonary evaluations for the multidisciplinary treatment of MCTT syndrome.

Keywords: craniofacial and oral anomalies, MN1 C-terminal truncation syndrome, MN1 gene variant. (editor:CJDR)