FEATURES OF ASSOCIATED TRAITS OF 3272-16T>A MUTATION IN CYSTIC FIBROSIS IN CHILDREN: DESCRIPTION OF THREE CASES
V.V. Shadrina (1), S.A. Krasovsky (2), E.G. Furman (1)
1) E.A.Vagner Perm State Medical University of RMH, Perm, Russia;
2) Scientific Research Institute of Pulmonology FMBA of Russia, Moscow, Russia
Due to the screening of newborns for cystic fibrosis and the improvement of genetic diagnostic methods, previously unrecognized mutations in the CFTR gene are identified. A complex clinical examination of three children aged 3, 8 and 9 years with the presence of rare 3272-16T> A mutation in the genotype was carried out. In one patient, 3272-16T>A mutation was in the homozygous position. The phenotype with 3272-16T>A mutation was characterized by a classic course of cystic fibrosis, positive parameters of immunoreactive trypsinogen and sweat chlorides, but with little involvment in the pathological process in pancreas.
Keywords: cystic fibrosis, rare mutations, «mild» genotype, 3272-16 T>A mutation, CFTR
About the Autors
Corresponding author: S.A. Krasovsky – PhD, Researcher at the Laboratory of Cystic Fibrosis SRI of Pulmonology, FMBA of Russia, Moscow, Russia; 8 (495) 965-23-24; e-mail: firstname.lastname@example.org