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Status |
Public on Nov 21, 2019 |
Title |
A KHDC3L mutation resulting in recurrent hydatidiform mole causes genome-wide DNA methylation loss in oocytes and persistent imprinting defects post-fertilisation. |
Organism |
Homo sapiens |
Experiment type |
Methylation profiling by genome tiling array
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Summary |
Maternal-effect mutations in components of the subcortical maternal complex (SCMC) of the human oocyte can cause early embryonic failure, gestational abnormalities and recurrent pregnancy loss. Enigmatically, they are also associated with DNA methylation abnormalities at imprinted genes in conceptuses, in the devastating gestational abnormality biparental complete hydatidiform mole (BiCHM) or in multi-locus imprinting disease (MLID). However, the developmental timing, genomic extent and mechanistic basis of these imprinting defects are unknown. Here, we studied methylation level of a women reported with familial recurrent hydatidiform mole and multiple pregnancy loss. Genotype analysis revealed homozygous mutation in KHDC3L. We obtained biparental mole from patient (Patient D) and compared it’s whole-genome methylation profile with respect to control placentas and sporadic mole (AnCHM) using Infinium MethylationEPIC BeadChip (WG-317-1001, Illumina). We also used endometrium samples from their respective mother for the comparison purposes. Molar conceptuses were observed with methylation defects at genome-wide level and profound loss of methylation at multiple genome-derived differentially methylated regions (gDMRs) confirming MLID.
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Overall design |
DNA samples from control placenta, biparental mole and sporadic mole were analysed using using Infinium MethylationEPIC 850K Bead Chip and pyrosequencing. Methylation level was assesed at genome-wide level and specific genome features (eg. gDMRs and CpG Islands).
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Contributor(s) |
Demond H, Anvar Z, Jahromi BN, Sparago A, Verma A, Davari M, Calzari L, Russo S, Jahromi MA, Monk D, Andrews S, Riccio A, Kelsey G |
Citation(s) |
31847873 |
Submission date |
Oct 15, 2019 |
Last update date |
Dec 31, 2019 |
Contact name |
Ankit Verma |
E-mail(s) |
ankitverma9079@gmail.com
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Organization name |
Institute of Genetics and Biophysics "A. Buzzati Traverso" (IGB-ABT)
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Street address |
Via Pietro Castellino, 111
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City |
Naples |
State/province |
Naples |
ZIP/Postal code |
80131 |
Country |
Italy |
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Platforms (1) |
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Samples (6)
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Relations |
BioProject |
PRJNA577637 |
Supplementary file |
Size |
Download |
File type/resource |
GSE138864_Matrix_processed.txt.gz |
40.0 Mb |
(ftp)(http) |
TXT |
GSE138864_Matrix_signal_intensities.txt.gz |
27.3 Mb |
(ftp)(http) |
TXT |
GSE138864_RAW.tar |
242.6 Mb |
(http)(custom) |
TAR (of IDAT) |
Processed data included within Sample table |
Processed data are available on Series record |
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