ஜர்னல் ஆஃப் ஜெனடிக் சிண்ட்ரோம்ஸ் & ஜீன் தெரபி
திறந்த அணுகல்

சுருக்கம்

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 Schaefer, Maryline Minoux, Julia Lauer, Valérie Pelletier, Matthieu Schmittbuhl, Marie-Cécile Manière, François Clauss, Françis Veillon, Sophie Riehm, Corinne Stoetzel and Helene Dollfus

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.