title: LAMM syndrome with middle ear dysplasia associated with compound heterozygosity for FGF3 mutations.
abstract: We report on the first cases of FGF3 compound heterozygotes in two European families from non-consanguineous marriages, affected with labyrinthine aplasia, microtia, and microdontia (LAMM) Syndrome. Three not previously described mutations (p.W153VfsX51, p.Y106C, and p.Y49C) and a recurrent one (p.R104X) were found. Analysis of 50 unrelated control subjects (100 chromosomes) of the same European background did not show any of the two newly reported missense variations. We confirm the absence of otodental syndrome in heterozygous carriers, but report unilateral microtia in one of them. We also report on the involvement of the middle ear structures in LAMM Syndrome.
authors.affiliation: Genetica Medica, Azienda Ospedaliero Universitaria di Ferrara, Università di Ferrara, Italy. sna@unife.it
authors.forename: Alberto
authors.initials: A
authors.lastname: Sensi
authors.forename: Stefano
authors.initials: S
authors.lastname: Ceruti
authors.forename: Patrizia
authors.initials: P
authors.lastname: Trevisi
authors.forename: Francesca
authors.initials: F
authors.lastname: Gualandi
authors.forename: Micol
authors.initials: M
authors.lastname: Busi
authors.forename: Ilaria
authors.initials: I
authors.lastname: Donati
authors.forename: Marcella
authors.initials: M
authors.lastname: Neri
authors.forename: Alessandra
authors.initials: A
authors.lastname: Ferlini
authors.forename: Alessandro
authors.initials: A
authors.lastname: Martini
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D004427:Ear Diseases / Q000235:genetics*; D005260:Female; D051518:Fibroblast Growth Factor 3 / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation; D013577:Syndrome
chemical_list: C496444:FGF3 protein, human; D051518:Fibroblast Growth Factor 3