Details

Autor(en) / Beteiligte

• Petrova, Nika V
• Kashirskaya, Nataliya Y
• Krasovskiy, Stanislav A
• Amelina, Elena L
• Kondratyeva, Elena I
• Marakhonov, Andrey V
• Vasilyeva, Tatyana A
• Voronkova, Anna Y
• Sherman, Victoria D
• Ginter, Evgeny K
• Kutsev, Sergey I
• Zinchenko, Rena A

Titel

Clinical Presentation of the c.3844T>C (p.Trp1282Arg, W1282R) Variant in Russian Cystic Fibrosis Patients

Ist Teil von

• Genes, 2020-09, Vol.11 (10), p.1137

Ort / Verlag

Switzerland: MDPI AG

Erscheinungsjahr

2020

Quelle

MEDLINE

Beschreibungen/Notizen

• The goal was to study the phenotypic manifestations of c.3844T>C (p.Trp1282Arg, W1282R) variant, a CF-causing mutation, in patients from the Russian Federation. Clinical manifestations and complications (the age at CF diagnosis, sweat test, pancreatic status, lung function, microbial infection, body mass index (BMI), the presence of meconium ileus (MI), diabetes, and severe liver disease) were compared in four groups: group 1-patients carrying c.3844T>C and severe class I or II variant in trans; group 2-3849+10kbC>T/F508del patients; group 3-F508del/F508del patients; and group 4-patients with W1282R and "mild" variant in trans. Based on the analyses, W1282R with class I or II variant in trans appears to cause at least as severe CF symptoms as F508del homozygotes as reflected in the early age of diagnosis, high sweat chloride concentration, insufficient pancreatic function, and low lung function, in contrast to 3849+10kbC-T/F508del compound heterozygotes having milder clinical phenotypes. The W1282R pathogenic variant is seemed to lead to severe disease phenotype with pancreatic insufficiency similarly to the F508del homozygous genotype.