FGF10 missense mutations in aplasia of lacrimal and salivary glands (ALSG)
| Autor: | Niklas Dahl, Babak Falahat, Johanna Dahlqvist, William Reardon, Miriam Entesarian, Christy Stanley, Vandana Shashi |
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| Rok vydání: | 2007 |
| Předmět: |
Male
medicine.medical_specialty Pathology Molecular Sequence Data Mutation Missense Lacrimal gland Salivary Glands Internal medicine Genetics medicine Humans Missense mutation Amino Acid Sequence Genetics (clinical) FGF10 Salivary gland business.industry Lacrimal Apparatus Aplasia medicine.disease Phenotype Hypoplasia Pedigree stomatognathic diseases medicine.anatomical_structure Endocrinology Amino Acid Substitution Child Preschool Atresia Female business Fibroblast Growth Factor 10 |
| Zdroj: | European Journal of Human Genetics. 15:379-382 |
| ISSN: | 1476-5438 1018-4813 |
| Popis: | Aplasia of lacrimal and salivary glands (ALSG) is an autosomal dominant congenital anomaly characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary systems. Affected individuals present with irritable eyes and dryness of the mouth with variable expressivity. Mutations in FGF10 were recently described in ALSG and in lacrimo-auriculo-dento-digital (LADD) syndrome which are overlapping clinical entities. We present here two families with ALSG associated with missense mutations (R80S and G138E, respectively) affecting highly conserved residues in FGF10. The clinical features of these patients further broaden the knowledge of FGF10-related phenotypes. |
| Databáze: | OpenAIRE |
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