case_images: PMC7489478_01
case_images: Clinical data of the proband. (A) Plain chest X-ray at day 27 of life. High-frequency oscillatory ventilation. Asymmetrical transparency of right lung with signs of developing bronchopulmonary dysplasia. (B) Autopsy. Lung parenchyma is airless, pale violet color, tough and rigid to touch. (Ci) Histological examination of lung tissue. Marked variable interstitial widening (stars) and diffuse type II pneumocyte hyperplasia (arrows). Hematoxylin-eosin staining, original magnification 100x. (Cii) Intra-alveolar glassy eosinophilic homogenous periodic acid-Schiff stain (PAS)-positive material (star). Original magnification 200x.
case_images: fgene-11-568303-g001.jpg
case_images: PMC7489478_01_fgene-11-568303-g001.jpg
case_images: F1
case_images: The tissue was firmer and more rigid than usual; under high pressure, a small amount of milky white liquid was oozing from an incision (Figure 1B). In some alveoli, a lumpy, dark, eosinophilic periodic acid-Schiff stain (PAS)-positive material was also found (Figures 1Ci,ii).
case_images: Sanger sequencing results. Molecular analysis presenting ABCA3 variant c.440C>T/p.Pro147Leu to be inherited from mother (A) and variant c.737C>T/p.Pro246Leu from father (B).
case_images: fgene-11-568303-g002.jpg
case_images: PMC7489478_01_fgene-11-568303-g002.jpg
case_images: F2
case_images: In analyzing the parents' DNA, the c.440C>T mutation was detected in the mother (Figure 2A) and the c.737C>T was found to be inherited from the father (Figure 2B).