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Forskolin-induced Swelling in Intestinal Organoids: An In Vitro Assay for Assessing Drug Response in Cystic Fibrosis Patients

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Mutational Spectrum of the CFTR Gene in the Kazakhstan Population

Munira Bulegenova¹, Milan Macek², Malgorzata Libik³

¹Laboratory Department, Scientific Center of Pediatrics and Children Surgery, Almaty, Kazakhstan. Correspondence to: Dr Munira Bulegenova, Laboratory Department, Scientific Center of Pediatrics and Children Surgery, Almaty, Kazakhstan. mbulegenova@yandex.kz.

Indian Pediatrics

|March 11, 2022

Abstract

Objective:

To study the frequency and spectrum of CFTR gene variants in different ethnic groups of Kazakhstan.

Methods:

We reviewed the records of 58 patients with cystic fibrosis. All the patients underwent molecular genetic analysis to reveal genotype-phenotype correlations.

Results:

The median (IQR) age of the patients was 5.4 year (7 months, 18 year); 40% were diagnosed at the age of 5-10 year. The study identified 28 specific variants: p.Phe508del, the variant most common in the European population, was detected in 30 patients (51.7%). Variants other than p.Phe508del were revealed in 31% (21 patients).

Conclusions:

We found a number of specific variants characteristic of the Kazakhstani population. A pronounced regression of disease symptoms was detected in patients with mild mutations; whereas in patients with severe mutations, therapy produced very little effect.

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