LAMM syndrome with middle ear dysplasia associated with compound heterozygosity for FGF3 mutations.
| Autor: | Sensi A; Genetica Medica, Azienda Ospedaliero Universitaria di Ferrara, Università di Ferrara, Italy. sna@unife.it, Ceruti S, Trevisi P, Gualandi F, Busi M, Donati I, Neri M, Ferlini A, Martini A |
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| Jazyk: | angličtina |
| Zdroj: | American journal of medical genetics. Part A [Am J Med Genet A] 2011 May; Vol. 155A (5), pp. 1096-101. Date of Electronic Publication: 2011 Apr 07. |
| DOI: | 10.1002/ajmg.a.33962 |
| Abstrakt: | 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. (Copyright © 2011 Wiley-Liss, Inc.) |
| Databáze: | MEDLINE |
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