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胚系亚皮质母性复合物基因和多基因印记障碍的变异与流产/不孕或 Beckwith-Wiedemann 综合征后代有关。

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

机构信息

Research Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, Milan, Italy.

Bioinformatics and Statistical Genomics Unit, Istituto Auxologico Italiano IRCCS, Milan, Italy.

出版信息

Clin Epigenetics. 2022 Mar 22;14(1):43. doi: 10.1186/s13148-022-01262-2.

DOI:10.1186/s13148-022-01262-2
PMID:35317853
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8941822/
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.

摘要

贝-威二氏综合征（BWS，OMIM#130650）是一种印记紊乱疾病，与过度生长和胚胎肿瘤风险增加有关。携带 KCNQ1OT1:TSS DMR（11p15.5）低甲基化的患者在其他印记区域发生表观遗传突变时会出现多基因印记障碍（MLID）。据报道，少数 BWS MLID 母亲携带母源效应基因的双等位致病性变异，主要是皮质下母源复合物的组成部分。我们描述了两个家系，一个家系有受孕困难的病史，携带新的纯合无义 NLRP2 变异，另一个家系经历了 8 次流产，携带复合杂合 PADI6 变异。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6067/8941822/f35e29fb0cfe/13148_2022_1262_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6067/8941822/f35e29fb0cfe/13148_2022_1262_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6067/8941822/f35e29fb0cfe/13148_2022_1262_Fig1_HTML.jpg

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本文引用的文献

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2
Biallelic PADI6 variants cause multilocus imprinting disturbances and miscarriages in the same family.双等位基因 PADI6 变异导致同一家庭的多位点印记紊乱和流产。
Eur J Hum Genet. 2021 Apr;29(4):575-580. doi: 10.1038/s41431-020-00762-0. Epub 2020 Nov 21.
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Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance.
皮肤发育过程中表观遗传学变化的综合评估。
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Two Novel Protein-Truncating Variants in NLRP2 and Their Functional Impacts on the Subcortical Maternal Complex.NLRP2中的两种新型蛋白质截短变体及其对皮质下母体复合体的功能影响。
Clin Genet. 2025 Aug;108(2):179-183. doi: 10.1111/cge.14718. Epub 2025 Feb 4.
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Comprehensive molecular and clinical findings in 29 patients with multi-locus imprinting disturbance.29 例多基因印记紊乱患者的综合分子和临床发现。
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The phenotypic variations of multi-locus imprinting disturbances associated with maternal-effect variants of NLRP5 range from overt imprinting disorder to apparently healthy phenotype.多基因印记紊乱与 NLRP5 的母源效应变异相关，其表型变异范围从明显的印记障碍到明显的健康表型。
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Maternal variants in and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring.母体变异在 和其他母体效应蛋白中与后代的多基因印记干扰有关。
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Nat Commun. 2015 Sep 1;6:8086. doi: 10.1038/ncomms9086.
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Germline mutation in NLRP2 (NALP2) in a familial imprinting disorder (Beckwith-Wiedemann Syndrome).家族性印记障碍（贝克威思-维德曼综合征）中NLRP2（NALP2）的种系突变。
PLoS Genet. 2009 Mar;5(3):e1000423. doi: 10.1371/journal.pgen.1000423. Epub 2009 Mar 20.