SUPT5H mutations associated with elevation of Hb A < sub > 2 < /sub > level: Identification of two novel variants and literature review

In this study, we identified two novel variants in the SUPT5H gene: a frameshift mutation (SUPT5H: c.3032_3033delTG, p.M1011Mfs*9) and a nonsense mutation (SUPT5H: c.397C > T, p.Arg133*) in two Chinese individuals. Utilizing a combination of phenotype analysis, bioinformatics analysis, and functional analysis, we deduced that these two variants modified the SUPT5H protein's structure, thereby impacting its function and consequently leading to the heightened Hb A2 level phenotype found in the carriers. Furthermore, through a comprehensive literature review, a mutation spectrum was consolidated for SUPT5H, an investigation into the genotype-phenotype correlation was conducted, and factors known to influence Hb A2 levels were identified. Based on this in-depth understanding, clinicians are better equipped to carry out large scale screenings in regions with high prevalence of β-thalassemia.PMID:38373659 | DOI:10.1016/j.gene.2024.148294

Source: Gene - February 19, 2024 Category: Genetics & Stem Cells Authors: Zezhang Lin Xiongda Liang Xiaofeng Wei Guanxia Liang Dina Zhu Hongting Xie Tizhen Yan Xuan Shang Source Type: research