Publications by authors named "Maryam Varkiani"
Colorectal cancer (CRC) is the second leading cause of cancer death worldwide that is attributed to gradual long-term accumulation of both genetic and epigenetic changes. To reduce the mortality rate of CRC and to improve treatment efficacy, it will be important to develop accurate noninvasive diagnostic tests for screening, acute and personalized diagnosis. Epigenetic changes such as DNA methylation play an important role in the development and progression of CRC.
View Article and Find Full Text PDFObjective: Hydatidiform mole (HM) is defined by trophoblastic proliferation and vesicular enlargement of placental villi in which, KHDC3L gene plays a causal role.
Case Report: This report presents a clinical review and genetic screening for p.Asp108Ilefs∗30 mutation in KHDC3L gene in an affected woman with a previous history of HM and three siblings with a history of HM.
Background: Recurrent pregnancy loss (RPL) is a multifactorial disorder which affects up to 5% of couples around the world. Several factors are considered to be involved in RPL; but, the etiology remains unexplained in 35-60% of cases. The aim of this study was to assess the frequency of risk factors associated with RPL in a group of our clinic clients, and their pre-implantation genetic screening (PGS) outcome.
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- Recurrent pregnancy loss (RPL) affects 1-3% of women globally, with known causes in only about half of the cases; many genetic factors are involved, but standard tests can't identify all issues.
- Whole-exome sequencing (WES) was used to study a consanguineous family with multiple RPL cases, alongside targeted testing of 40 other individuals experiencing RPL.
- A pathogenic variant in the KHDC3L gene was identified as the cause of RPL in the family, revealing that mutations in this gene can lead to both recurrent pregnancy loss and hydatidiform moles, with different outcomes based on the type of variant inherited.
Background: Triploidy is one of the most common chromosome abnormalities affecting human gestation and accounts for an important fraction of first-trimester miscarriages. Triploidy has been demonstrated in a few cases of recurrent pregnancy loss (RPL) but its molecular mechanisms are unknown. This study aims to identify the genetic cause of RPL associated with fetus triploidy.
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