P4HB and cholelithiasis: In addition, in the follow-up process, we found that some patients suffered from other diseases: one patient with WNT1 gene mutation (C4) was confirmed mitral and tricuspid regurgitation; five patients with IFITM5 gene mutation (C17–20 and C24) were confirmed to have hip inflammation; one patient with P4HB gene mutation (C1) showed impaired vision; electrocardiographic examination of the patient with IFITM5 gene mutation (C14) revealed intraventricular block; cholelithiasis was found in the patient with IFITM5 gene mutation (C23) by B-ultrasound.