An MBL2 haplotype and ABCB4 variants modulate the risk of liver disease in cystic fibrosis patients: A multicentre study

Biological role of mannose binding lectin: From newborns to centenarians

“…A body of evidence indicates that the reduced activity of MBL or of MASP-2 in serum may be responsible for a poorer outcome in CF patients promoting the development of pulmonary bacterial colonization, and a meta-analysis related MBL insufficiency to an earlier acquisition of Pseudomonas aeruginosa colonization to a reduced pulmonary function in CF patients [18]. Our group also demonstrated that the risk in developing liver disease in CF patients may be modulated by an MBL2 deficient haplotype [19].…”

Prenatal diagnosis of inherited diseases: 20 years’ experience of an Italian Regional Reference Centre

“…This is a critical point, because there is not a general consensus on what is considered a "serious" genetic disorder [36,37]. However, a series of monogenic diseases have a strongly discordant phenotype also in patients bearing the same genotype or in affected sibling pairs [38,39]. This makes it more difficult to predict the clinical expression of the disease and to counsel the couple.…”

Extensive Molecular Analysis Suggested the Strong Genetic Heterogeneity of Idiopathic Chronic Pancreatitis

“…All cases presented an early onset (17)(18)(19), that is, they were diagnosed within the first three decades of life. Exclusion criteria (MBL2, SCNN1G, SERPINA1, TGFB1 and TNFRSF1A) (31,32) Furthermore, we established a minimum threshold in Qscore of 30 (base call accuracy of 99.9%). All identified variants were analyzed with bioinformatics software that evaluates the impact of the change in amino-acidic structure on protein functionality with several parameters, and we filtered all variants to retain those alterations with high disease-causing potential.…”