Novel FGF10 mutation in autosomal dominant aplasia of lacrimal and salivary glands
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Tarih
2017
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Springer Heidelberg
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
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.
Açıklama
Anahtar Kelimeler
Fgf10, Aplasia Of Lacrimal And Salivary Glands, Lacrimo-Auriculo-Dento-Digital Syndrome, Haploinsufficiency, Nonsense Mutation
Kaynak
Clinical Oral Investigations
WoS Q Değeri
Q1
Scopus Q Değeri
Q1
Cilt
21
Sayı
1
