Chun Hang Lau, Maral J Rouhani, Elizabeth F Maughan, Jessica C Orr, Krishna K Kolluri, David R Pearce, Elizabeth K Haughey, Liam Sutton, Sam Flatau, Pablo Lopez Balboa, Maria Laura Bageta, Christopher O'Callaghan, Claire M Smith, Sam M Janes, Richard Hewitt, Gabriela Petrof, Anna E Martinez, John A McGrath, Colin R Butler, Robert E Hynds
The hallmark of epidermolysis bullosa (EB) is fragile attachment of epithelia due to genetic variants in cell adhesion genes. We describe 16 EB patients treated in the ear, nose, and throat department of a tertiary pediatric hospital linked to the United Kingdom's national EB unit between 1992 and 2023. Patients suffered a high degree of morbidity and mortality from laryngotracheal stenosis. Variants in laminin subunit alpha-3 (LAMA3) were found in 10/15 patients where genotype was available. LAMA3 encodes a subunit of the laminin-332 heterotrimeric extracellular matrix protein complex and is expressed by airway epithelial basal stem cells...
February 29, 2024: Molecular Therapy