Gaucher Disease: Clinical phenotypes and GBA1 variants spectrum in Kazakhstani patients

Amangeldiyeva A. Boranbayeva R. Abdilova G. Jaxybayeva I. Akhmedova D.
27 February 2026 Mattioli 1885

Acta Biomedica
2026 #97 Issue 1

Background and Aim: Gaucher disease (GD) is a rare lysosomal storage disorder caused by mutations in the β-glucosidase (GBA1) gene, with more than 500 variants described. This study aimed to investigate the clinical features and spectrum of GBA1 variants in Kazakhstani patients with GD. Methods: Medical records from the national referral center for GD in Kazakhstan were reviewed. Forty-five patients with confirmed GD were included. Diagnosis was confirmed by reduced β-glucosidase, glucocerebro-sidase enzyme activity, and supported by elevated plasma chitotriosidase activity. The entire coding region of GBA1 was analyzed using bidirectional Sanger sequencing. Results: Among 45 patients from 38 unrelated families, 15 variants were identified in 20 combinations, including 12 missense variants, 2 nonsense variants, 1 frameshift variant, 1 splice-site variant, and 1 recombinant variant. Of the missense variants, 10 were pathogenic, while 2 novel variants (A316L and F477R) were classified as likely pathogenic. The most frequent variants were L444P (28) and N370S (19). The N370S variant was predominant in GD type 1 (19), whereas L444P occurred in both type 1 (15) and type 3 (11) disease. Conclusions: This study demonstrated that 28 of 45 patients with GD in the Republic of Kazakhstan have type 1 disease, with the N370S mutation being the predominant genetic variant (28). Among the 17 patients withtype 2 and 3 GD who had central nervous system involvement, the most frequent finding was the L444P mutation. (www.actabiomedica.it).

Gaucher disease , GBA1 gene , variants , β-D-glucocerebrosidase

Text of the article Перейти на текст статьи

Scientific Center of Pediatrics and Pediatric Surgery, Almaty, Kazakhstan
MedInvestGroup Kazakhstan, Almaty, Kazakhstan
S.D. Asfendiyarov Kazakh National Medical University, Almaty, Kazakhstan
Tashkent State Medical University, Tashkent, Uzbekistan

Scientific Center of Pediatrics and Pediatric Surgery
MedInvestGroup Kazakhstan
S.D. Asfendiyarov Kazakh National Medical University
Tashkent State Medical University

10 лет помогаем публиковать статьи Международный издатель

Книга Публикация научной статьи Волощук 2026 Book Publication of a scientific article 2026