Figen Seymen1, Mine Koruyucu1, Ismet Rezani Toptanci2, Selahattin Balsak3, Serkan Dedeoglu3, Tahsin Celepkolu4, Teo Jeon Shin5, Hong-Keun Hyun5, Young-Jae Kim5, Jung-Wook Kim6,7. 1. Department of Pedodontics, Faculty of Dentistry, Istanbul University, Istanbul, Turkey. 2. Department of Pediatric Dentistry, Faculty of Dentistry, Dicle University, Diyarbakir, Turkey. 3. Gazi Yasargil Education and Research Hospital, Diyarbakir, Turkey. 4. Department of Family Practice, Faculty of Medicine, Dicle University, Diyarbakir, Turkey. 5. Department of Pediatric Dentistry & Dental Research Institute, School of Dentistry, Seoul National University, Seoul, Korea. 6. Department of Pediatric Dentistry & Dental Research Institute, School of Dentistry, Seoul National University, Seoul, Korea. pedoman@snu.ac.kr. 7. 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.
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.
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.
Entities:
Keywords:
Aplasia of lacrimal and salivary glands; FGF10; Haploinsufficiency; Lacrimo-auriculo-dento-digital syndrome; Nonsense mutation
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