Mutations in the gene encoding fibroblast growth factor 10 are associated with aplasia of lacrimal and salivary glands

被引：127

作者：

Entesarian, M

Matsson, H

Klar, J

Bergendal, B

Olson, L

Arakaki, R

Hayashi, Y

Ohuchi, H

Falahat, B

Bolstad, AI

Jonsson, R

Wahren-Herlenius, M

Dahl, N ^{[1
]}

机构：

[1] Uppsala Univ, Dept Genet & Pathol, Rudbeck Lab, SE-75185 Uppsala, Sweden

[2] Inst Postgrad Dent Educ, Natl Oral Disabil Ctr, SE-55111 Jonkoping, Sweden

[3] Inst Postgrad Dent Educ, Dept Pediat Dent, SE-55111 Jonkoping, Sweden

[4] Univ Tokushima, Grad Sch, Inst Hlth Biosci, Dept Oral Mol Pathol, Tokushima 7708506, Japan

[5] Univ Tokushima, Fac Engn, Dept Biol Sci & Technol, Tokushima 7708506, Japan

[6] Inst Postgrad Dent Educ, Dept Maxillofacial Radiol, SE-55111 Jonkoping, Sweden

[7] Univ Bergen, Fac Dent, Dept Odontol Periodont, N-5009 Bergen, Norway

[8] Univ Bergen, Gade Inst, N-5021 Bergen, Norway

[9] Karolinska Inst, Dept Med, SE-17176 Stockholm, Sweden

来源：

NATURE GENETICS | 2005年 / 37卷 / 02期

关键词：

D O I：

10.1038/ng1507

中图分类号：

Q3 [遗传学];

学科分类号：

071007 [遗传学]; 090102 [作物遗传育种];

摘要：

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.

引用

页码：125 / 127

页数：3

共 17 条

[1]

Fibroblast growth factor-10 is a mitogen for urothelial cells [J].