MMRN2 mutation underlies a rare form of autosomal-dominant laryngeal malformation

The aim of this study was to investigate the genetic basis and pathogenic mechanism of nonsyndromic laryngeal malformations, including disrupted thyroid cartilage structures and malformed vocal cords, in a four-generation family. Clinical characterizations, whole-exome sequencing, and co-segregation analysis were carried out on the family. Mice models were used to investigate the pathogenesis of MMRN2 mutations. RNA sequencing were used to investigate the pathogenic pathway through which the Mmrn2 leads to changes in the morphologies of the larynges.