title: FGF10 missense mutations in aplasia of lacrimal and salivary glands (ALSG).
abstract: 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.
authors.affiliation: The Rudbeck Laboratory, Department of Genetics and Pathology, Uppsala University, Uppsala, Sweden.
authors.forename: Miriam
authors.initials: M
authors.lastname: Entesarian
authors.forename: Johanna
authors.initials: J
authors.lastname: Dahlqvist
authors.forename: Vandana
authors.initials: V
authors.lastname: Shashi
authors.forename: Christy S
authors.initials: CS
authors.lastname: Stanley
authors.forename: Babak
authors.initials: B
authors.lastname: Falahat
authors.forename: William
authors.initials: W
authors.lastname: Reardon
authors.forename: Niklas
authors.initials: N
authors.lastname: Dahl
mesh_terms: D000595:Amino Acid Sequence; D019943:Amino Acid Substitution; D002675:Child, Preschool; D005260:Female; D051526:Fibroblast Growth Factor 10 / Q000235:genetics*; D006801:Humans; D007765:Lacrimal Apparatus / Q000002:abnormalities*; D008297:Male; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D010375:Pedigree; D012469:Salivary Glands / Q000002:abnormalities*
chemical_list: C496463:FGF10 protein, human; D051526:Fibroblast Growth Factor 10