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01-01-2017 | Original Article

Novel FGF10 mutation in autosomal dominant aplasia of lacrimal and salivary glands

Authors: Figen Seymen, Mine Koruyucu, Ismet Rezani Toptanci, Selahattin Balsak, Serkan Dedeoglu, Tahsin Celepkolu, Teo Jeon Shin, Hong-Keun Hyun, Young-Jae Kim, Jung-Wook Kim

Published in: Clinical Oral Investigations | Issue 1/2017

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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Title: Novel FGF10 mutation in autosomal dominant aplasia of lacrimal and salivary glands
Authors: Figen Seymen
Mine Koruyucu
Ismet Rezani Toptanci
Selahattin Balsak
Serkan Dedeoglu
Tahsin Celepkolu
Teo Jeon Shin
Hong-Keun Hyun
Young-Jae Kim
Jung-Wook Kim
Publication date: 01-01-2017
Publisher: Springer Berlin Heidelberg
Published in: Clinical Oral Investigations / Issue 1/2017
Print ISSN: 1432-6981
Electronic ISSN: 1436-3771
DOI: https://doi.org/10.1007/s00784-016-1771-x

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Novel FGF10 mutation in autosomal dominant aplasia of lacrimal and salivary glands

Abstract

Objective

Materials and methods

Results

Conclusion

Clinical relevance

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Objective

Materials and methods

Results

Conclusion

Clinical relevance

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