TMEM16A deficiency – a potentially fatal neonatal disease resulting from impaired chloride currents

In a consanguineous family, we identified a truncating pathogenic variant in TMEM16A. As a result, the patients develop a severe neonatal disorder mimicking necrotizing enterocolitis. Electrophysiological studies demonstrate absence of TMEM16A-mediated chloride currents and severe impairment of CFTR, the ion channel mutated in Cystic Fibrosis. Despite this, the patients had no respiratory symptoms but instead gravely impaired intestinal peristalsis, in line with previous reports from mouse models.

By leading to CFTR deficiency without causing Cystic Fibrosis, this novel syndrome raises intriguing questions about the pathogenesis and possible treatment for a wide array of respiratory diseases. (Julien H. Park et al., https://jmg.bmj.com/content/early/2020/05/28/jmedgenet-2020-106978 )

(Visited 101 times, 1 visits today)