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

@article{Entesarian2005MutationsIT,
  title={Mutations in the gene encoding fibroblast growth factor 10 are associated with aplasia of lacrimal and salivary glands},
  author={Miriam Entesarian and Hans Matsson and Joakim Klar and Birgitta Bergendal and L. Olson and Rieko Arakaki and Yoshio Hayashi and Hideyo Ohuchi and Babak Falahat and Anne Isine Bolstad and Roland Jonsson and Marie Wahren-Herlenius and Niklas Dahl},
  journal={Nature Genetics},
  year={2005},
  volume={37},
  pages={125-128}
}
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 missense mutations in aplasia of lacrimal and salivary glands (ALSG)
TLDR
Two families with ALSG associated with missense mutations (R80S and G138E, respectively) affecting highly conserved residues in FGF10 are presented and the clinical features of these patients further broaden the knowledge of FGF 10-related phenotypes.
An intronic alteration of the fibroblast growth factor 10 gene causing ALSG-(aplasia of lacrimal and salivary glands) syndrome
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This family-based approach revealed an intronic variation of the FGF10 gene causing ALSG-syndrome, which expands the mutational and clinical spectrum of the ALSG syndrome.
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Case report: aplasia of the lacrimal and major salivary glands (ALSG).
Interrogation of a lacrimo-auriculo-dento-digital syndrome protein reveals novel modes of fibroblast growth factor 10 (FGF10) function.
TLDR
FGF10 harbours two putative nuclear localization sequences (NLSs), termed NLS1 and NLS2, which individually or co-operatively promote nuclear translocation of FGF10, which suggests that in addition to its paracrine roles, FGF 10 may normally play intracrine role/s within F GF10-producing cells.
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It is concluded that ALSG and LADD syndrome may represent variable presentations of the same clinical spectrum caused by FGF10 mutations.
Aplasia of the lacrimal and major salivary glands (ALSG). First case report in spanish population and review of the literature
TLDR
In this case, a 40 years male patient diagnosed with complete agenesis of all salivary glands is the first of ALSG syndrome in the Spanish literature.
Deletion of the last two exons of FGF10 in a family with LADD syndrome and pulmonary acinar hypoplasia
TLDR
A multi-generational family with seven members manifesting varying features of LADD syndrome, with one individual dying in early infancy of PAH, identifies a 12,158 bp deletion on chromosome 5p12 that removes two of the three exons of FGF10 and concludes the deletion is pathogenic and expands the mutational spectrum of F GF10 variants in Ladd syndrome.
Investigation of FGF10 as a candidate gene in patients with anorectal malformations and exstrophy of the cloaca
TLDR
Data obtained is not supportive of FGF10 as a genetic cause of ARMs or CE in the patients investigated, and it cannot be ruled out that other genes involved in the signalling pathway of F GF10 may contribute to the formation of these congenital malformations.
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