scholarly journals 6 Peculiarities of mutation spectrum and frequency of CFTR gene in Russian Federation according to the Registry data in 2013

2016 ◽  
Vol 15 ◽  
pp. S52-S53 ◽  
Author(s):  
N. Kapranov ◽  
E. Kondratyeva ◽  
S. Krasovsky ◽  
E. Amelina ◽  
R. Zinchenko ◽  
...  
Keyword(s):  
Russian Federation ◽  
Registry Data ◽  
Mutation Spectrum ◽  
Cftr Gene

Stargardt disease-associated mutation spectrum of a Russian Federation cohort

2017 ◽  
Vol 60 (2) ◽  
pp. 140-147 ◽  
Author(s):  
Inna V. Zolnikova ◽  
Vladimir V. Strelnikov ◽  
Natalia A. Skvortsova ◽  
Alexander S. Tanas ◽  
Debmalya Barh ◽  
...  
Keyword(s):  
Russian Federation ◽  
Mutation Spectrum ◽  
Stargardt Disease

scholarly journals RHEUMATOID ARTHRITIS IN THE RUSSIAN FEDERATION ACCORDING TO RUSSIAN ARTHRITIS REGISTRY DATA (COMMUNICATION I)

2016 ◽  
Vol 54 ◽  
pp. 50-62
Author(s):  
E. L. Nasonov ◽  
D. E. Karateev ◽  
A. M. Satybaldyev ◽  
E. L. Luchikhina ◽  
G. V. Lukina ◽  
...  
Keyword(s):  
Rheumatoid Arthritis ◽  
Russian Federation ◽  
Data Communication ◽  
Registry Data ◽  
The Russian Federation

scholarly journals RHEUMATOID ARTHRITIS IN THE RUSSIAN FEDERATION ACCORDING TO RUSSIAN ARTHRITIS REGISTRY DATA (COMMUNICATION I)

2015 ◽  
Vol 53 (5) ◽  
pp. 472-484 ◽  
Author(s):  
E. L. Nasonov ◽  
D. E. Karateev ◽  
A. M. Satybaldyev ◽  
E. L. Luchikhina ◽  
G. V. Lukina ◽  
...  
Keyword(s):  
Rheumatoid Arthritis ◽  
Russian Federation ◽  
Data Communication ◽  
Registry Data ◽  
The Russian Federation

CFTR gene mutation spectrum among 735 Iranian patients with cystic fibrosis: A comprehensive systematic review

2021 ◽  
Author(s):  
Reza Alibakhshi ◽  
Aboozar Mohammadi ◽  
Sahand Khamooshian ◽  
Mohsen Kazeminia ◽  
Keivan Moradi
Keyword(s):  
Systematic Review ◽  
Cystic Fibrosis ◽  
Gene Mutation ◽  
Mutation Spectrum ◽  
Cftr Gene ◽  
Iranian Patients

scholarly journals Mutation spectrum of the CFTR gene in Taiwanese patients with congenital bilateral absence of the vas deferens

2005 ◽  
Vol 20 (9) ◽  
pp. 2470-2475 ◽  
Author(s):  
Chien-Chih Wu ◽  
Özgül M. Alper ◽  
Jyh-Feng Lu ◽  
Song-Ping Wang ◽  
Li Guo ◽  
...  
Keyword(s):  
Vas Deferens ◽  
Mutation Spectrum ◽  
Cftr Gene ◽  
Bilateral Absence

scholarly journals P008 CFTR gene mutation spectrum peculiarities in Russian cystic fibrosis patients

2018 ◽  
Vol 17 ◽  
pp. S61
Author(s):  
T. Adyan ◽  
S. Krasovsky ◽  
A. Stepanova ◽  
A. Polyakov
Keyword(s):  
Cystic Fibrosis ◽  
Gene Mutation ◽  
Mutation Spectrum ◽  
Cftr Gene

scholarly journals 17 Features of mutation spectrum in the Chechen CF patients from Russian Federation

2017 ◽  
Vol 16 ◽  
pp. S67
Author(s):  
N.V. Petrova ◽  
N.J. Kashirskaya ◽  
D.K. Saydaeva ◽  
O.I. Simonova ◽  
E.I. Kondratyeva ◽  
...  
Keyword(s):  
Russian Federation ◽  
Mutation Spectrum

scholarly journals Clinical and genetic features of cystic fibrosis patients with novel pathogenic variant CFTR c.1083G> A (p.Trp361*) and functional assessment of the activity of the chloride channel

2019 ◽  
pp. 9-18
Author(s):  
Е.И. Кондратьева ◽  
Ю.Л. Мельяновская ◽  
А.С. Ефремова ◽  
Н.В. Булатенко ◽  
Т.Б. Бухарова ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Russian Federation ◽  
Genetic Variant ◽  
Clinical Manifestations ◽  
Pathogenic Variant ◽  
Cftr Gene ◽  
Genetic Characteristics ◽  
Intestinal Organoids ◽  
The Russian Federation ◽  
First Time

В статье впервые представляется клинико-генетическая характеристика мутации c.1083G>A (p.Trp361*) в гене CFTR. Патогенный генетический вариант c.1083G>A (p.Trp361*) гена CFTR относится к нонсенс-мутациям (I класс) и впервые был внесён в базу данных CFTR1 (http://www.genet.sickkids.on.ca) в середине 2019 г. без описания клинической картины муковисцидоза. Методы. Проведен анализ амбулаторных карт и историй болезни двух пациентов из неродственных семей с редким генетическим вариантом c.1083G>A (p.Trp361*). Для определения разности кишечных потенциалов (ОРКП) и проведения форсколинового теста на кишечных органоидах использовали биопсийный материал слизистой прямой кишки пациентов. ДНК для секвенирования выделяли из лейкоцитов венозной крови пациентов. Результаты. Анализ клинических проявлений заболевания у детей 6 и 9 лет показал наличие хронической панкреатической недостаточности, более выраженной у одного ребенка с синдромом дистальной интестинальной обструкции кишечника в анамнезе. Клиническая картина второго пациента характеризовалась развитием в раннем возрасте транзиторной гипербилирубинемии, синдрома псевдо-Барттера, а в дальнейшем - повторными эпизодами бронхиальной обструкции и развитием полипозного риносинусита. ОРКП и форсколиновый тест на кишечных органоидах показали, что генетический вариант c.1083G>A (p.Trp361*) относится к вариантам гена CFTR с отсутствием функции хлорного канала. Выводы. Впервые представлены описание клинической картины муковисцидоза у двух пациентов из неродственных семей с патогенным вариантом c.1083G>A (p.Trp361*) в компаунде с вариантом c.1521_1523delCTT (p.Phe508del) (ранее называемом F508del) и результаты оценки функции белка CFTR методом ОРКП и форсколиновым тестом на кишечных органоидах. In this article we continue to describe the pathogenic variants of the CFTR gene identified among Russian cystic fibrosis (CF) patients. For the first time the clinical and genetic characteristics of the mutation c.1083G> A (p.Trp361 *) are presented. The pathogenic genetic variant c.1083G> A (p.Trp361 *) of the CFTR gene belongs to the nonsense mutations (class I) and was listed for the first time in the CFTR1 database (http://www.genet.sickkids.on.ca) by Professor Milan Macek et al. in mid-2019 without any description of clinical manifestations of cystic fibrosis. Methods. The data of the National Register of Patients with Cystic Fibrosis of the Russian Federation 2017 were analyzed. Outpatient records and case histories of two patients from unrelated families carrying a rare genetic variant c.1083G> A (p.Trp361 *) were analyzed. To determine the Intestinal current measurement (ICM) and Forskolin-induced swelling (FIS) in intestinal organoids, rectal biopsy material of CF patients was used. DNA for sequencing was isolated from leukocytes of venous blood of the patients. Results. Variant c.1083G> A (p.Trp361 *) was found in two patients from unrelated families from different regions of the Russian Federation, according to the Register of Cystic Fibrosis Patients in the Russian Federation 2017. Analysis of clinical manifestations of the disease in children 6 and 9 years old showed the presence of chronic pancreatic insufficiency, more expressed in one child with a history of distal intestinal obstruction syndrome. The clinical manifestation of the second patient was characterized by the development of transient hyperbilirubinemia, Pseudo-Bartter’s syndrome at an early age, and subsequently repeated episodes of bronchial obstruction and the development of polypoid rhinosinusitis. The ICM method and the FIS in intestinal organoids showed that the genetic variant c.1083G> A (p.Trp361 *) refers to the variants of the CFTR gene with the absence of chlorine channel function. Conclusion. The clinical picture of cystic fibrosis in two patients from unrelated families with the pathogenic variant c.1083G> A (p.Trp361 *) in the compound with variant c.1521_1523delCTT (p.Phe508del) (variant legacy name F508del) and results of the evaluation of the CFTR protein functions, obtained by the method of ICM and using the FIS assay in intestinal organoids, are presented for the first time. Patients continue to be under the control in Russian CF centers.

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