泪腺和唾液腺发育不全综合征中FGF10基因的新致病变异：眼科与遗传学研究
New pathogenic variant in the FGF10 gene in the agenesis of lacrimal and salivary gland syndrome: Ophthalmological and genetic study.
作者信息
Rodrigo Maria Jesus, Idoipe Miriam, Izquierdo Silvia, Satue Maria, Mateo Antonio, Sanchez Antonio, Garcia-Martin Elena, Pablo Luis
机构信息
a Ophthalmology Department , Miguel Servet University Hospital, Miguel Servet Ophthalmology Innovative and Research Group (GIMSO), University of Zaragoza , Zaragoza , Spain.
b Aragon Institute for Health Research IIS-Aragon, Institute of Health Sciences of Aragon , Zaragoza , Spain.
出版信息
Ophthalmic Genet. 2018 Jan-Feb;39(1):125-128. doi: 10.1080/13816810.2017.1381976. Epub 2017 Oct 20.
Aplasia/agenesis of lacrimal and salivary glands is a rare congenital defect that has been associated with disturbances in fibroblast growth factor 10 (FGF10). It can present with symptoms of congenital lacrimal obstruction, dry eye, and dry mouth. We report the ophthalmological and genetic study of a 19-year-old woman and her relatives suffering from this syndrome. A new probably pathogenic variant is described in the FGF10 gene.
泪腺和唾液腺发育不全/发育缺失是一种罕见的先天性缺陷，与成纤维细胞生长因子10（FGF10）紊乱有关。它可表现为先天性泪道阻塞、干眼和口干的症状。我们报告了一名患有该综合征的19岁女性及其亲属的眼科和遗传学研究情况。在FGF10基因中描述了一种新的可能致病的变异。
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