FGF10 missense mutations in aplasia of lacrimal and salivary glands (ALSG)
2007 (English)In: European Journal of Human Genetics, ISSN 1018-4813, E-ISSN 1476-5438, Vol. 15, no 3, 379-382 p.Article in journal (Refereed) Published
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.
Place, publisher, year, edition, pages
2007. Vol. 15, no 3, 379-382 p.
ALSG, LADD syndrome, FGF10, missense mutations
Medical and Health Sciences
IdentifiersURN: urn:nbn:se:uu:diva-16743DOI: 10.1038/sj.ejhg.5201762ISI: 000244406200019PubMedID: 17213838OAI: oai:DiVA.org:uu-16743DiVA: diva2:44514