Novel FGF10 mutation in autosomal dominant aplasia of lacrimal and salivary glands
Novel FGF10 mutation in autosomal dominant aplasia of lacrimal and salivary glands
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DOI：
10.1007/s00784-016-1771-x
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发表时间：
2017-01-01
影响因子：
3.4
通讯作者：
Kim, Jung-Wook
中科院分区：
文献类型：
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作者：
Seymen, Figen;Koruyucu, Mine;Kim, Jung-Wook
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疾病，其特征是泪腺和唾液腺系统发育不全、闭锁或发育不全，表现形式多样。本研究的目的是确定一个ALSG家系的遗传病因，我们招募了一个土耳其ALSG家系，并进行了突变分析，基于候选基因的方法，以澄清分子遗传病因，候选基因测序的FGF10基因，确定了一个新的杂合无义突变（c.237G > A，p.Trp79*）。由于过早终止密码子引起的无义介导的mRNA衰变，所鉴定的新突变将导致FGF 10的单倍不足。本研究进一步证实ALSG是由功能性FGF10单倍不足引起的，明确ALSG的遗传病因有助于患者家属和牙科医生对该病的认识。因此，它将积极推动口腔保健，以避免由于缺乏唾液产生而进一步破坏牙齿。
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.