Germline variants in genes of the subcortical maternal complex and Multilocus Imprinting Disturbance are associated with miscarriage/infertility or Beckwith-Wiedemann progeny.
Pierpaola TannorellaLuciano CalzariCecilia DaolioEster MaininiAlessandro VimercatiDavide GentiliniFiorenza SoliAnnalisa PedrolliMaria Teresa BonatiLidia LarizzaSilvia RussoPublished in: Clinical epigenetics (2022)
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.
Keyphrases
- birth weight
- end stage renal disease
- pregnancy outcomes
- copy number
- genome wide
- ejection fraction
- chronic kidney disease
- peritoneal dialysis
- white matter
- prognostic factors
- type diabetes
- genome wide identification
- pregnant women
- multiple sclerosis
- intellectual disability
- transcription factor
- weight gain
- adipose tissue
- dna methylation
- gene expression
- gestational age
- oxidative stress
- patient reported outcomes
- patient reported
- preterm birth