Recurrence of triploidy in a woman with low level 45,X mosaicism

Johnson, L R; Blough, Ruthann I.; Miller, Marvin E.

doi:10.1097/00125817-200001000-00218

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“…Huang et al (2004) similarly reported on a woman who at age 31 had had three triploid losses, all of which were determined to be due to maternal MII errors. An additional case with three triploid losses was reported in a mother with low level 45, X mosaicism, but molecular testing was not performed in this case (Johnson et al, 2000).…”

Section: Introductionmentioning

confidence: 96%

Recurrent triploidy due to a failure to complete maternal meiosis II: whole-exome sequencing reveals candidate variants

Filges¹,

Manokhina²,

Peñaherrera³

et al. 2014

MHR: Basic Science of Reproductive Medicine

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Triploidy is a relatively common cause of miscarriage; however, recurrent triploidy has rarely been reported. A healthy 34-year-old woman was ascertained because of 18 consecutive miscarriages with triploidy found in all 5 karyotyped losses. Molecular results in a sixth loss were also consistent with triploidy. Genotyping of markers near the centromere on multiple chromosomes suggested that all six triploid conceptuses occurred as a result of failure to complete meiosis II (MII). The proband's mother had also experienced recurrent miscarriage, with a total of 18 miscarriages. Based on the hypothesis that an inherited autosomal-dominant maternal predisposition would explain the phenotype, whole-exome sequencing of the proband and her parents was undertaken to identify potential candidate variants. After filtering for quality and rarity, potentially damaging variants shared between the proband and her mother were identified in 47 genes. Variants in genes coding for proteins implicated in oocyte maturation, oocyte activation or polar body extrusion were then prioritized. Eight of the most promising candidate variants were confirmed by Sanger sequencing. These included a novel change in the PLCD4 gene, and a rare variant in the OSBPL5 gene, which have been implicated in oocyte activation upon fertilization and completion of MII. Several variants in genes coding proteins playing a role in oocyte maturation and early embryonic development were also identified. The genes identified may be candidates for the study in other women experiencing recurrent triploidy or recurrent IVF failure.

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Section: Introductionmentioning

confidence: 96%