Novel compound heterozygous OBSCN variants in Chinese children with congenital pulmonary airway malformation

The etiology of congenital pulmonary airway malformation (CPAM) has not been well described. In this study, whole-exome sequencing (WES) technology was used to sequence 9 CPAM families to screen the pathogenic genes and their mutations for CPAM. Sanger sequencing was performed for verify the functions of these mutations. We found compound heterozygous mutations in OBSCN gene in two patients with CPAM: one with p.G8837A mutation from her father and p.G1126S mutation from her mother; the other with p.R5167W mutation from his father and p.A7475T mutation from his mother. Then we explored the expression of OBSCN during mouse lung development, confirming that the gene mainly acts on the pseudoglandular stage. In summary, OBSCN may be a pathogenic gene of CPAM.