Evaluation and identification of ıdua gene mutations in turkishpatients with mucopolysaccharidosis type I
Yükleniyor...
Tarih
2016
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
Background/aim: This study aimed to identify IDUA gene mutations in Turkish patients morphologically (phenotypic) diagnosed with MPS type I. It also sought to discuss the possible effects of detected mutations on alpha-L-iduronidase enzyme function based on current knowledge. Materials and methods: Genetic analysis was carried out in 15 patients using direct DNA sequencing. Moreover, segregation analysis was performed among family members to predict the pathogenic effect of novel mutations, and computational programs were used to predict their functional impact. Results: Nine different mutations (c.494-1G>A, c.793-6C>G, c.793-5C>A, p.M1L, p.Y64X, p.A327P, p.W402X, p.P533L, and p.R628X) were identified. Computational analysis results supported the pathogenicity of novel mutations, suggesting improper splicing. Seven already-known polymorphisms were detected in the screened cohort as well. Conclusion: Our results revealed heterogeneity in the mutation spectrum of Turkish patients. Six of the mutations, including the novel ones, have never before been reported in the Turkish population. Moreover, 5 patients who were phenotypically diagnosed with MPS type I could not be confirmed by genetic analysis, indicating the importance of the molecular characterization of MPS subtypes.
Açıklama
Atçeken, Nazente (Aksaray, Yazar) Karaca, Mehmet (Aksaray, Yazar)
Anahtar Kelimeler
IDUA Gene, Mutation Analysis, MPS Type I, Alpha-L-İduronidase, IDUA Gen, Mutasyon Analizi, MPS Tip I, Alfa-İduronidaz
Kaynak
Turkish Journal of Medical Sciences
WoS Q Değeri
N/A
Scopus Q Değeri
Q1
Cilt
46
Sayı
2
