Germline variants in genes of the subcortical maternal complex and Multilocus Imprinting Disturbance are associated with miscarriage/infertility or Beckwith-Wiedemann progeny.
Clin Epigenetics
; 14(1): 43, 2022 03 22.
Article
em En
| MEDLINE
| ID: mdl-35317853
ABSTRACT
Beckwith-Wiedemann syndrome (BWS, OMIM # 130650) is an imprinting disorder, associated with overgrowth and increased risk of embryonal tumors. Patients carrying hypomethylation in the KCNQ1OT1TSS 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.
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Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Síndrome de Beckwith-Wiedemann
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Aborto Espontâneo
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Infertilidade
Tipo de estudo:
Risk_factors_studies
Limite:
Female
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Humans
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Pregnancy
Idioma:
En
Ano de publicação:
2022
Tipo de documento:
Article