LAMM syndrome with middle ear dysplasia associated with compound heterozygosity for FGF3 mutations

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.R...

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2011-05, Vol.155 (5), p.1096-1101
Main Authors: Sensi, Alberto, Ceruti, Stefano, Trevisi, Patrizia, Gualandi, Francesca, Busi, Micol, Donati, Ilaria, Neri, Marcella, Ferlini, Alessandra, Martini, Alessandro
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - genetics
Aplasia
Biological and medical sciences
Dysplasia
Ear Diseases - genetics
Ear, auditive nerve, cochleovestibular tract, facial nerve: diseases, semeiology
Female
FGF3
Fibroblast growth factor 3
Fibroblast Growth Factor 3 - genetics
Heterozygote
Heterozygotes
Humans
LAMM
Male
Medical genetics
Medical sciences
Microtia
Middle ear
Mutation
Non tumoral diseases
Otorhinolaryngology. Stomatology
Syndrome
syndromic deafness
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Summary: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.
ISSN:1552-4825
1552-4833
1552-4833
DOI:10.1002/ajmg.a.33962