Mutations in the gene encoding fibroblast growth factor 10 are associated with aplasia of lacrimal and salivary glands
Mutations in the gene encoding fibroblast growth factor 10 are associated with aplasia of lacrimal and salivary glands
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DOI：
10.1038/ng1507
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发表时间：
2005-02-01
期刊：
影响因子：
30.8
通讯作者：
Dahl, N
中科院分区：
文献类型：
--
作者：
Entesarian, M;Matsson, H;Dahl, N
常染色体显性泪腺和唾液腺发育不全（ALSG； OMIM 180920和OMIM 103420）是一种罕见的疾病，其特征是眼睛易激和口干。我们将ALSG映射到5p13。2 - 5个问题。1，这与成纤维细胞生长因子10 （FGF10）基因一致。在两个扩展的家系中，我们在所有als患者中发现了FGF10的杂合突变。Fgf10（+/-）小鼠具有与ALSG相似的表型，为这种疾病提供了模型。我们认为，在发育的关键阶段，FGF10的单倍体不足导致了ALSG。
Autosomal dominant aplasia of lacrimal and salivary glands (ALSG; OMIM 180920 and OMIM 103420) is a rare condition characterized by irritable eyes and dryness of the mouth. We mapped ALSG to 5p13. 2- 5q13. 1, which coincides with the gene fibroblast growth factor 10 (FGF10). In two extended pedigrees, we identified heterozygous mutations in FGF10 in all individuals with ALSG. Fgf10(+/-) mice have a phenotype similar to ALSG, providing a model for this disorder. We suggest that haploinsufficiency for FGF10 during a crucial stage of development results in ALSG.