Research question:
Are TUBB8 gene variations present in Iranian infertile women with oocyte maturation arrest or embryo cleavage arrest?
Design:
TUBB8 gene variations were investigated by polymerase chain
reaction sequencing on blood samples from 16 women with oocyte
maturation arrest and 12 women with cleavage arrest, collectively
referred to as the experimental cohort, as well as 56 fertile women as
the control group. The Exome Sequencing Project and dbSNP databases and
the Genome Aggregation Database were used to search the frequency of
corresponding variants. PolyPhen and SIFT were used to conduct in-silico
analysis of gene variations and Align-GVGD was used to predict the
effect of missense variants on proteins. The homology modelling and
structure evaluation of variations was also checked.
Results:
Two likely pathogenic variants [c.713C>T (p.Thr238Met),
c.1054G>T (p.Ala352Ser)] were identified in patients with oocyte
maturation arrest and one likely pathogenic variant [c.G763A,
(p.Val255Met)] was identified in a patient with cleavage arrest. These
changes were absent in controls.
Conclusions:
Three deleterious variants in TUBB8 related to oocyte maturation
arrest or cleavage arrest and infertility were identified. TUBB8 variant
screening for patients with oocyte maturation and cleavage arrest is
recommended.