Germline variants in genes of the subcortical maternal complex and Multilocus Imprinting Disturbance are associated with miscarriage/infertility or Beckwith–Wiedemann progeny
| العنوان: | Germline variants in genes of the subcortical maternal complex and Multilocus Imprinting Disturbance are associated with miscarriage/infertility or Beckwith–Wiedemann progeny |
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| المؤلفون: | Pierpaola Tannorella, Luciano Calzari, Cecilia Daolio, Ester Mainini, Alessandro Vimercati, Davide Gentilini, Fiorenza Soli, Annalisa Pedrolli, Maria Teresa Bonati, Lidia Larizza, Silvia Russo |
| المصدر: | Clinical Epigenetics. 14 |
| بيانات النشر: | Springer Science and Business Media LLC, 2022. |
| سنة النشر: | 2022 |
| مصطلحات موضوعية: | Abortion, Spontaneous, Genomic Imprinting, Beckwith-Wiedemann Syndrome, Germ Cells, Pregnancy, Infertility, Genetics, Humans, Female, DNA Methylation, Molecular Biology, Genetics (clinical), Developmental Biology |
| الوصف: | Beckwith–Wiedemann syndrome (BWS, OMIM # 130650) is an imprinting disorder, associated with overgrowth and increased risk of embryonal tumors. Patients carrying hypomethylation in the KCNQ1OT1:TSS DMR (11p15.5) show MLID (Multilocus Imprinting Disturbance) upon epimutations at other imprinted regions. Few cases of BWS MLID’s mothers with biallelic pathogenetic variants in maternal effect genes, mainly components of the subcortical maternal complex, are reported. We describe two families, one with a history of conception difficulties with a novel homozygous nonsense NLRP2 variant and another experiencing 8 miscarriages with a compound heterozygous PADI6 variant. |
| تدمد: | 1868-7083 1868-7075 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0dace534547dd53089f209f5aefb0e7bTest https://doi.org/10.1186/s13148-022-01262-2Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....0dace534547dd53089f209f5aefb0e7b |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 18687083 18687075 |
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