Seymen Figen, Koruyucu Mine, Toptanci Ismet Rezani, Balsak Selahattin, Dedeoglu Serkan, Celepkolu Tahsin, Shin Teo Jeon, Hyun Hong-Keun, Kim Young-Jae, Kim Jung-Wook
Department of Pedodontics, Faculty of Dentistry, Istanbul University, Istanbul, Turkey.
Department of Pediatric Dentistry, Faculty of Dentistry, Dicle University, Diyarbakir, Turkey.
Clin Oral Investig. 2017 Jan;21(1):167-172. doi: 10.1007/s00784-016-1771-x. Epub 2016 Mar 9.
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.
We recruited a Turkish family with ALSG and performed a mutational analysis, based on the candidate gene approach, to clarify the molecular genetic etiology.
The candidate gene sequencing of the FGF10 gene identified a novel heterozygous nonsense mutation (c.237G > A, p.Trp79*) in the exon 1.
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.
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.
泪腺和唾液腺发育不全（ALSG）是一种罕见的常染色体显性遗传病，其特征为泪腺和唾液腺系统发育不全、闭锁或发育不良，且具有可变的表达性。本研究旨在确定一个ALSG家系的遗传病因。
我们招募了一个患有ALSG的土耳其家系，并基于候选基因方法进行突变分析，以阐明分子遗传病因。
FGF10基因的候选基因测序在第1外显子中鉴定出一个新的杂合无义突变（c.237G＞A，p.Trp79*）。
由于过早的终止密码子导致无义介导的mRNA降解，所鉴定的新突变将导致FGF10单倍剂量不足。本报告进一步证实ALSG是由功能性FGF10单倍剂量不足引起的。
确定ALSG的遗传病因将有助于家庭成员和牙医了解该疾病的本质。因此，它将积极推动口腔保健，以避免因唾液分泌不足而导致牙齿进一步受损。
