Publications by authors named "N 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.
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