title: Novel FGF10 mutation in autosomal dominant aplasia of lacrimal and salivary glands.
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.
  
  
  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.
  
  
  CONCLUSIONS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Pedodontics, Faculty of Dentistry, Istanbul University, Istanbul, Turkey.
authors.forename: Figen
authors.initials: F
authors.lastname: Seymen
authors.affiliation: Department of Pedodontics, Faculty of Dentistry, Istanbul University, Istanbul, Turkey.
authors.forename: Mine
authors.initials: M
authors.lastname: Koruyucu
authors.affiliation: Department of Pediatric Dentistry, Faculty of Dentistry, Dicle University, Diyarbakir, Turkey.
authors.forename: Ismet Rezani
authors.initials: IR
authors.lastname: Toptanci
authors.affiliation: Gazi Yasargil Education and Research Hospital, Diyarbakir, Turkey.
authors.forename: Selahattin
authors.initials: S
authors.lastname: Balsak
authors.affiliation: Gazi Yasargil Education and Research Hospital, Diyarbakir, Turkey.
authors.forename: Serkan
authors.initials: S
authors.lastname: Dedeoglu
authors.affiliation: Department of Family Practice, Faculty of Medicine, Dicle University, Diyarbakir, Turkey.
authors.forename: Tahsin
authors.initials: T
authors.lastname: Celepkolu
authors.affiliation: Department of Pediatric Dentistry & Dental Research Institute, School of Dentistry, Seoul National University, Seoul, Korea.
authors.forename: Teo Jeon
authors.initials: TJ
authors.lastname: Shin
authors.affiliation: Department of Pediatric Dentistry & Dental Research Institute, School of Dentistry, Seoul National University, Seoul, Korea.
authors.forename: Hong-Keun
authors.initials: HK
authors.lastname: Hyun
authors.affiliation: Department of Pediatric Dentistry & Dental Research Institute, School of Dentistry, Seoul National University, Seoul, Korea.
authors.forename: Young-Jae
authors.initials: YJ
authors.lastname: Kim
authors.affiliation: Department of Pediatric Dentistry & Dental Research Institute, School of Dentistry, Seoul National University, Seoul, Korea. pedoman@snu.ac.kr.|Department of Molecular Genetics & Dental Research Institute, School of Dentistry, Seoul National University, 275-1 Yongon-dong, Chongno-gu, Seoul, 110-768, Korea. pedoman@snu.ac.kr.
authors.forename: Jung-Wook
authors.initials: JW
authors.lastname: Kim
mesh_terms: D000328:Adult; D002675:Child, Preschool; D018389:Codon, Nonsense; D005091:Exons; D005260:Female; D051526:Fibroblast Growth Factor 10 / Q000235:genetics*; D006801:Humans; D007223:Infant; D007765:Lacrimal Apparatus / Q000002:abnormalities* / Q000000981:diagnostic imaging; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012469:Salivary Glands / Q000002:abnormalities* / Q000000981:diagnostic imaging; D014421:Turkey
chemical_list: D018389:Codon, Nonsense; C496463:FGF10 protein, human; D051526:Fibroblast Growth Factor 10
keywords: Aplasia of lacrimal and salivary glands; FGF10; Haploinsufficiency; Lacrimo-auriculo-dento-digital syndrome; Nonsense mutation