Unknown

Dataset Information

0

Germline variants in genes of the subcortical maternal complex and Multilocus Imprinting Disturbance are associated with miscarriage/infertility or Beckwith-Wiedemann progeny.

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 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.

SUBMITTER: Tannorella P 

PROVIDER: S-EPMC8941822 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature

Json Xml
altmetric image

Publications

Germline variants in genes of the subcortical maternal complex and Multilocus Imprinting Disturbance are associated with miscarriage/infertility or Beckwith-Wiedemann progeny.

Tannorella Pierpaola P   Calzari Luciano L   Daolio Cecilia C   Mainini Ester E   Vimercati Alessandro A   Gentilini Davide D   Soli Fiorenza F   Pedrolli Annalisa A   Bonati Maria Teresa MT   Larizza Lidia L   Russo Silvia S  

Clinical epigenetics 20220322 1

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 wit  ...[more]

Similar Datasets

Unknown A patient with multilocus imprinting disturbance involving hypomethylation at 11p15 and 14q32, and phenotypic features of Beckwith-Wiedemann and Temple syndromes.
| S-EPMC9310769 | biostudies-literature
Unknown Clinical and Molecular Diagnosis of Beckwith-Wiedemann Syndrome with Single- or Multi-Locus Imprinting Disturbance.
| S-EPMC8036922 | biostudies-literature
Unknown Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance.
| S-EPMC7489023 | biostudies-literature
Unknown Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndrome.
| S-EPMC6117921 | biostudies-literature
Unknown Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith-Wiedemann syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting disturbances.
| S-EPMC9148495 | biostudies-literature
Unknown Highly variable genomic methylation in the Beckwith-Wiedemann syndrome associated with multi-locus imprinting disturbances.
| S-EPMC12495795 | biostudies-literature
Methylation profiling Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann Syndrome with multi-locus imprinting disturbance
2020-10-02 | GSE153211 | GEO
Unknown Thirteen cases support the clinical significance of imprinting center 1 (IC1) microdeletions in Beckwith-Wiedemann syndrome.
| S-EPMC12039090 | biostudies-literature
Unknown Large offspring syndrome: a bovine model for the human loss-of-imprinting overgrowth syndrome Beckwith-Wiedemann.
| S-EPMC3857339 | biostudies-literature
Unknown Frequency of KCNQ1 variants causing loss of methylation of Imprinting Centre 2 in Beckwith-Wiedemann syndrome.
| S-EPMC7216698 | biostudies-literature