alexa A Novel Mutation Involving the Initiation Codon of FGF3 in a Family Described with Complete Inner Ear Agenesis, Microtia and Major Microdontia (LAMM Syndrome) | Abstract
ISSN: 2157-7412

Journal of Genetic Syndromes & Gene Therapy
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Research Article

A Novel Mutation Involving the Initiation Codon of FGF3 in a Family Described with Complete Inner Ear Agenesis, Microtia and Major Microdontia (LAMM Syndrome)

Elise Schaefer1,2, Maryline Minoux3, Julia Lauer1, Valérie Pelletier1, Matthieu Schmittbuhl3, Marie-Cécile Manière3, François Clauss3,Françis Veillon4, Sophie Riehm4, Corinne Stoetzel1 and Helene Dollfus1,2*

1Laboratoire de Génétique Médicale, INSERM U1112, Fédération de Médecine Translationnelle de Strasbourg (FMTS), Faculté de Médecine, Université de Strasbourg,Strasbourg, France

2Service de Génétique Médicale, Hôpitaux Universitaires de Strasbourg, Strasbourg, France

3Centre de Référence National des Manifestations Odontologiques de Maladies Rares, Faculté de Chirurgie Dentaire, Université de Strasbourg, Strasbourg, France

4Service de Radiologie 1, Hôpitaux Universitaires de Strasbourg, Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg,France

These authors contributed equally to this work.

*Corresponding Author:
Helene Dollfus
Laboratoire de Génétique Médicale,INSERM U1112
Fédération de Médecine Translationnelle de Strasbourg (FMTS)
Faculté de Médecine, Université de Strasbourg, Strasbourg, France
Tel: +0033388128120
Fax: +0033388128125
E-mail: [email protected]

Received date: May 29, 2014; Accepted date:October 25, 2014; Published date: October 31,2014

Citation: Schaefer E, Minoux M, Lauer J, Pelletier V, Schmittbuhl , et al. (2014) A Novel Mutation Involving the Initiation Codon of FGF3 in a Family Described with Complete Inner Ear Agenesis, Microtia and Major Microdontia (LAMM Syndrome).J Genet Syndr Gene Ther 5:251. doi: 10.4172/2157-7412.1000251

Copyright: © 2014 Schaefer E, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited

Abstract

LAMM syndrome (OMIM #610706) is a rare autosomal recessive syndrome characterized by the association of Michel aplasia, microdontia and malformation of the external ear. Different mutations in FGF3 gene were reported in several families presenting with this syndrome. Clinical features and genetic results observed in a family with LAMM syndrome are reported. The diagnosis of isolated Michel aplasia was initially made in this family composed of two affected children. Microtia and microdontia was recently evidenced in both patients suggesting the diagnosis of LAMM syndrome. New auditory and orodental iconography was performed permitting to describe the patients’ phenotype in depth and to report rare findings of LAMM syndrome. The sequencing of FGF3 gene identified a novel missense mutation (c.2T>G), substituting the first initiator methionine in arginine, in the fibroblast growth factor 3 (FGF3) at the homozygous state in both patients. LAMM syndrome was confirmed and appropriate genetic counseling performed.

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