Publications by authors named "Nawel Mechtouf"
Purpose: To investigate the frequency of a founder mutation in NLRP7, L750V, in independent cohorts of Mexican patients with recurrent hydatidiform moles (RHMs).
Methods: Mutation analysis was performed by Sanger sequencing on DNA from 44 unrelated Mexican patients with RHMs and seven molar tissues from seven additional unrelated patients.
Results: L750V was present in homozygous or heterozygous state in 37 (86%) patients and was transmitted on the same haplotype to patients from different states of Mexico.
NLRP7 is a maternal-effect gene that has a primary role in the oocyte. Its biallelic mutations are a major cause for recurrent diploid biparental hydatidiform moles (HMs). Here, we describe the full characterization of four HMs from a patient with a novel homozygous protein-truncating mutation in NLRP7.
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Article Synopsis
- Hydatidiform mole (HM) is a type of unusual pregnancy where there is abnormal growth of cells and problems with the baby developing.
- There are two main types of HM: complete and partial, and some patients have more than one kind happening in their pregnancies.
- The study found that women with HM have a higher chance of having miscarriages that are caused by chromosomal problems, especially if they are older or have certain types of HM, compared to women without HM.
Hydatidiform mole (HM) is an abnormal human pregnancy characterized by excessive trophoblastic proliferation and abnormal embryonic development. There are two types of HM based on microscopic morphological evaluation, complete HM (CHM) and partial HM (PHM). These can be further subdivided based on the parental contribution to the molar genomes.
View Article and Find Full Text PDFMetastatic nodal involvement is a critical prognostic factor in uterine cervical cancer (UCC). To improve current methods of detecting UCC metastases in lymph nodes (LNs), we used quantitative PCR (qPCR) to assess mRNA expression of potential metastatic biomarkers. We found that expression of HPV16-E6, cytokeratin19 (CK19), and mucin1 (MUC1) is consistently upregulated in tumors and metastatic tissues, supporting a role for these genes in UCC progression.
View Article and Find Full Text PDFHydatidiform mole is an aberrant human pregnancy characterized by early embryonic arrest and excessive trophoblastic proliferation. Recurrent hydatidiform moles are defined by the occurrence of at least two hydatidiform moles in the same patient. Fifty to eighty percent of patients with recurrent hydatidiform moles have biallelic pathogenic variants in NLRP7 or KHDC3L.
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- Miscarriages occur in 15% of recognized pregnancies, with recurrent miscarriage (RM) affecting 1%-5% of couples trying to conceive, defined as having two or more consecutive losses.
- Researchers studied 93 products of conception from 53 RM patients, discovering a patient with four triploid POCs, validated through various genetic techniques, indicating a potential genetic predisposition linked to a failure in meiosis II (MII).
- Investigating the family history revealed a pattern of ovarian dysfunction and teratomas, suggesting an inherited genetic susceptibility to MII errors, which could explain both digynic triploid miscarriages and the formation of ovarian teratomas.