Abstract
Objective
Aplasia of lacrimal and salivary glands (ALSG) is a rare autosomal dominant inherited disease, characterized by aplasia, atresia, or hypoplasia of the lacrimal and salivary systems with variable expressivity. The purpose of this study was to identify genetic etiology of an ALSG family.
Materials and methods
We recruited a Turkish family with ALSG and performed a mutational analysis, based on the candidate gene approach, to clarify the molecular genetic etiology.
Results
The candidate gene sequencing of the FGF10 gene identified a novel heterozygous nonsense mutation (c.237G > A, p.Trp79*) in the exon 1.
Conclusion
The identified novel mutation would result in a haploinsufficiency of the FGF10, because of nonsense-mediated mRNA decay caused by a premature stop codon. This report further confirms that ALSG is caused by the haploinsufficiency of functional FGF10.
Clinical relevance
Identification of the genetic etiology of the ALSG will help both the family members and dentist understand the nature of the disorder. Therefore, it will positively motivate oral health care to avoid further destruction of the tooth due to the lack of salivary production.
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We thank the participants in this study for their cooperation.
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This work was supported by grants by the National Research Foundation of Korea (NRF) grant funded by the Korean government (2014R1A2A1A11049931).
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The authors declare that they have no conflict of interest.
Ethical approval
All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.
Informed consent
Informed consent was obtained from all individual participants included in the study. The study protocol was reviewed and approved by the Institutional Review Board at Seoul National University Dental Hospital (CRI05003G) and at the University of Istanbul (IRB00009905).
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Seymen, F., Koruyucu, M., Toptanci, I.R. et al. Novel FGF10 mutation in autosomal dominant aplasia of lacrimal and salivary glands. Clin Oral Invest 21, 167–172 (2017). https://doi.org/10.1007/s00784-016-1771-x
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DOI: https://doi.org/10.1007/s00784-016-1771-x