How to Cite this Article: Sensi A, Ceruti S, Trevisi P, Gualandi F, Busi M, Donati I, Neri M, Ferlini A, Martini A. 2011. LAMM syndrome with middle ear dysplasia associated with compound heterozygosity for FGF3 mutations. Am J Med Genet Part A 155:1096–1101.
LAMM syndrome with middle ear dysplasia associated with compound heterozygosity for FGF3 mutations†
Article first published online: 7 APR 2011
Copyright © 2011 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 155, Issue 5, pages 1096–1101, May 2011
How to Cite
Sensi, A., Ceruti, S., Trevisi, P., Gualandi, F., Busi, M., Donati, I., Neri, M., Ferlini, A. and Martini, A. (2011), LAMM syndrome with middle ear dysplasia associated with compound heterozygosity for FGF3 mutations. Am. J. Med. Genet., 155: 1096–1101. doi: 10.1002/ajmg.a.33962
- Issue published online: 19 APR 2011
- Article first published online: 7 APR 2011
- Manuscript Accepted: 18 JAN 2011
- Manuscript Received: 8 JAN 2010
- syndromic deafness;
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. © 2011 Wiley-Liss, Inc.