Identification of the first dominant mutation of LAMA5 gene causing a complex multisystem syndrome due to dysfunction of the extracellular matrix

Laminin alpha 5 gene (LAMA5) plays a master role in the extracellular matrix in all mammalian tissues; mice defective of LAMA5 do not overcome embryonic life. In this paper a previously unknown autosomal dominant clinico-pathological syndrome is described which segregates with the mutation c.9418G>A (p.V3140M) of LAMA5 in an informative Italian family.  The results of this study highlight the importance of LAMA5 in the histogenesis, developmental patterning, maintenance and repair of all body tissues and also open new perspectives to investigate on the pathogenesis of pathologies  such as, night blindness, intestinal malabsorption, osteoarthritis, altered scarring, and  new strategies for their treatment. (By Dr. Teresa Esposito, http://jmg.bmj.com/content/early/2017/07/22/jmedgenet-2017-104555 )