IllnessCystic fibrosis, most frequent mutations

Step-by-step diagnostics:

• 1st step: about 30 of the most common mutations
• 2nd step: full sequencing (on request) if stage 1 could not sufficiently clarify the issue

When fully developed, cystic fibrosis (CF; cystic fibrosis) is accompanied by severe affections of the lungs, the intestinal tract and all exocrine glandular tissues. In CF patients, the glandular secretions are thickened and block the laxative passages, especially in the lungs and pancreas. However, CF symptoms can vary greatly, so that individual patients are only diagnosed in adulthood or only infertility develops in men (congenital bilateral aplasia of the vas deferens; CBAVD). On the other hand, the first signs of the disease can already appear at birth. Average life expectancy has risen sharply in recent decades. The course and (gene) therapy options depend directly on the mutations found in the CFTR gene, which can already be detected in the course of newborn screening. Since more than 2000 recurrent and de novo mutations occur in the CFTR gene as well as its regulatory environment, molecular genetics sometimes only yields a reliably pathogenic sequence deviation. Then the review with the clinic decides on the final diagnosis and therapy.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1250/

Most frequent mutations in Central Europe: F508del; I507del; G542X; N1303K; 1717-1G>A; W1282X; G551D; R553X; 3272-26A>G; CFTRdele2,3 (21kb); 3905insT; G85E; 621+1G>T; 1078delT; R347P; R334W; E60X; 2789+5G>A; R1162X; 3659delC; 3849+10kbC>T; 2143delT; A455E; 2183AA>G; 2184delA; 1677delTA; 2184insA; E92X; I336K; Y1092X; M1101K; 2043delG; R1158X, 394delTT, E92K, R117H, R347H, 3120+1G>A, 5T-variant (IVS8-5T).

Detektion rate in central Europe: 89%

• Allelic: Bronchiectasis with/without elevated sweat chloride 1, modifier of
• Allelic: Congenital bilateral absence of vas deferens
• Allelic: Hypertrypsinemia, neonatal
• Allelic: Pancreatitis, hereditary idiopathic
• Allelic: Sweat chloride elevation without CF
• Cystic fibrosis, CF
• Mucoviscidosis
• Mukoviszidose
• Mukoviszidosis
• Zystische Fibrose