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

Miriam Entesarian; Hans Matsson; Joakim Klar; Birgitta Bergendal; Lena Olson; Rieko Arakaki; Yoshio Hayashi; Hideyo Ohuchi; Babak Falahat; Anne Isine Bolstad; Roland Jonsson; Marie Wahren-Herlenius; Niklas Dahl

doi:10.1038/ng1507

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

Miriam Entesarian, Hans Matsson, Joakim Klar, Birgitta Bergendal, Lena Olson, Rieko Arakaki, Yoshio Hayashi, Hideyo Ohuchi, Babak Falahat, Anne Isine Bolstad, Roland Jonsson, Marie Wahren-Herlenius, Niklas Dahl

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128 Citations (Scopus)

Abstract

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 FCF10 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.

Original language	English
Pages (from-to)	125-127
Number of pages	3
Journal	Nature Genetics
Volume	37
Issue number	2
DOIs	https://doi.org/10.1038/ng1507
Publication status	Published - Feb 1 2005
Externally published	Yes

ASJC Scopus subject areas

Genetics

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

abstract = "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 FCF10 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.",

author = "Miriam Entesarian and Hans Matsson and Joakim Klar and Birgitta Bergendal and Lena Olson and Rieko Arakaki and Yoshio Hayashi and Hideyo Ohuchi and Babak Falahat and Bolstad, {Anne Isine} and Roland Jonsson and Marie Wahren-Herlenius and Niklas Dahl",

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T1 - Mutations in the gene encoding fibroblast growth factor 10 are associated with aplasia of lacrimal and salivary glands

AU - Entesarian, Miriam

AU - Matsson, Hans

AU - Klar, Joakim

AU - Bergendal, Birgitta

AU - Olson, Lena

AU - Arakaki, Rieko

AU - Hayashi, Yoshio

AU - Ohuchi, Hideyo

AU - Falahat, Babak

AU - Bolstad, Anne Isine

AU - Jonsson, Roland

AU - Wahren-Herlenius, Marie

AU - Dahl, Niklas

PY - 2005/2/1

Y1 - 2005/2/1

N2 - 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 FCF10 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.

AB - 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 FCF10 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.

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

Abstract

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