[HTML][HTML] A novel homozygous mutation in the PADI6 gene causes early embryo arrest
X Wang, H Zhu, Y He, J Zeng, J Zhao, Q Xia, L Wu… - Reproductive …, 2022 - Springer
X Wang, H Zhu, Y He, J Zeng, J Zhao, Q Xia, L Wu, Z Yao, Y Li
Reproductive Health, 2022•SpringerBackground It has been proved that mutations in the PADI6 gene can cause early embryo
arrest. This study describes a newly discovered mutation in PADI6 that expands the genetic
spectrum of early embryo arrest. Methods Peripheral blood of a patient diagnosed with early
embryo arrest was collected for whole-exome sequencing. Sanger sequencing was
performed to confirm this mutation. The effects of the variant were investigated in human
embryonic kidney 293T (HEK293T) cells using western blotting, real-time quantitative …
arrest. This study describes a newly discovered mutation in PADI6 that expands the genetic
spectrum of early embryo arrest. Methods Peripheral blood of a patient diagnosed with early
embryo arrest was collected for whole-exome sequencing. Sanger sequencing was
performed to confirm this mutation. The effects of the variant were investigated in human
embryonic kidney 293T (HEK293T) cells using western blotting, real-time quantitative …
Background
It has been proved that mutations in the PADI6 gene can cause early embryo arrest. This study describes a newly discovered mutation in PADI6 that expands the genetic spectrum of early embryo arrest.
Methods
Peripheral blood of a patient diagnosed with early embryo arrest was collected for whole-exome sequencing. Sanger sequencing was performed to confirm this mutation. The effects of the variant were investigated in human embryonic kidney 293T (HEK293T) cells using western blotting, real-time quantitative polymerase chain reaction, and immunofluorescence.
Results
A novel homozygous mutation in PADI6 was identified in the proband. The patient carried a frameshift insertion mutation c.558dupA (p.Thr187Asnfs*48), which was located in the protein arginine deiminase middle domain. The variant destroyed PADI6 protein expression and reduced PADI6 mRNA expression in HEK293T cells.
Conclusions
The newly identified mutation in PADI6 accounts for early embryo arrest. It expands the spectrum of genetic causes and phenotypes of infertility in humans. These findings also provide an additional possible diagnostic marker for patients with recurrent in vitro fertilization/intracytoplasmic sperm injection failure.
Springer