Clinical and genetic phenotype of collagen VI-related dystrophy patients with pneumothorax (PTX)

PatientClinical phenotypeAge at PTX yearsGenetic mutation(s)Chronic ventilation at time of PTXRecurrent PTXCT scan with parenchymal changesPTX treatments
1Intermediate#At birthCOL6A2 gene (c.115+2T>C, c.1070_1070delC)NoNoNAOxygen only
2Intermediate#At birthSame as 1NoNoNAOxygen only
3Ullrich13COL6A3 gene (c.7264C>T, c.7669–2delA)IPPVYesNoThoracostomy tube
4Intermediate#37COL6A1 gene (c.842G>A, p.G281E)IPPVYesYesThoracostomy tubes
Open pleurodesis
5Ullrich26COL6A1 gene (c.868G>A, p.G290R)NIPPVYesYesThoracostomy tubes
Observation for small PTX
Choo-Kang et al. [5]Intermediate#26UnknownNIPPVYesYesThoracostomy tube
Chemical pleurodesis
Open pleurodesis

CT: computed tomography. IPPV: invasive positive pressure ventilation; NIPPV: noninvasive positive pressure ventilation; NA: not available. #: ambulant until adulthood with progressive respiratory insufficiency; : ambulation never achieved or lost prior to age 10 years.