影响及相关表型的11号染色体短臂15.5区132bp微缺失的母系与父系遗传 - Suppr

Maternal versus paternal inheritance of a 132 bp 11p15.5 microdeletion affecting and associated phenotypes.

作者信息

Stoltze Ulrik Kristoffer, Hansen Thomas Van Overeem, Brok Jesper Sune, Grønskov Karen, Tumer Zeynep, Ahlborn Lise Barlebo, Schmiegelow Kjeld, Wadt Karin A W

机构信息

Department of Clinical Genetics, Rigshospitalet, Copenhagen, Denmark

Department of Pediatrics and Adolescent Medicine, Rigshospitalet, Copenhagen, Denmark.

出版信息

J Med Genet. 2023 Feb;60(2):128-130. doi: 10.1136/jmedgenet-2021-108335. Epub 2022 Jun 30.

DOI:10.1136/jmedgenet-2021-108335

PMID:35772845

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9887393/

Abstract

摘要

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Maternal versus paternal inheritance of a 132 bp 11p15.5 microdeletion affecting and associated phenotypes.影响及相关表型的11号染色体短臂15.5区132bp微缺失的母系与父系遗传

J Med Genet. 2023 Feb;60(2):128-130. doi: 10.1136/jmedgenet-2021-108335. Epub 2022 Jun 30.

Paternal 132 bp deletion affecting in 11p15.5 is associated with growth retardation but does not affect imprinting.父源 11p15.5 区域 132bp 缺失导致生长迟缓，但不影响印迹。

J Med Genet. 2021 Mar;58(3):173-176. doi: 10.1136/jmedgenet-2020-106868. Epub 2020 May 23.

A 132 bp deletion affecting the gene associated with Silver-Russell syndrome clinical phenotype.一个 132bp 的缺失影响了与 Silver-Russell 综合征临床表型相关的基因。

J Med Genet. 2023 Feb;60(2):134-136. doi: 10.1136/jmedgenet-2021-108288. Epub 2022 Jun 30.

A maternal deletion upstream of the imprint control region 2 in 11p15 causes loss of methylation and familial Beckwith-Wiedemann syndrome.11p15印记控制区2上游的母源缺失导致甲基化缺失和家族性贝克威思-维德曼综合征。

Eur J Hum Genet. 2016 Aug;24(9):1280-6. doi: 10.1038/ejhg.2016.3. Epub 2016 Feb 3.

Unusual deletion of the maternal 11p15 allele in Beckwith-Wiedemann syndrome with an impact on both imprinting domains.Beckwith-Wiedemann 综合征中母源 11p15 等位基因的异常缺失，对两个印迹域均有影响。

Clin Epigenetics. 2021 Feb 4;13(1):30. doi: 10.1186/s13148-021-01020-w.

A novel IGF2/H19 domain triplication in the 11p15.5 imprinting region causing either Beckwith-Wiedemann or Silver-Russell syndrome in a single family.11p15.5印记区域中一种新的IGF2/H19结构域三倍体变异，导致一个家族中出现贝克威思-维德曼综合征或Silver-Russell综合征。

Am J Med Genet A. 2017 Jan;173(1):72-78. doi: 10.1002/ajmg.a.37964. Epub 2016 Sep 9.

The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith-Wiedemann syndrome and Silver-Russell syndrome cases.KCNQ1OT1 印迹控制区和非编码 RNA：来自 Beckwith-Wiedemann 综合征和 Silver-Russell 综合征病例研究的新特性。

Hum Mol Genet. 2012 Jan 1;21(1):10-25. doi: 10.1093/hmg/ddr419. Epub 2011 Sep 14.

Tumor development in the Beckwith-Wiedemann syndrome is associated with a variety of constitutional molecular 11p15 alterations including imprinting defects of KCNQ1OT1.贝克威思-维德曼综合征中的肿瘤发生与多种先天性分子11p15改变相关，包括KCNQ1OT1的印记缺陷。

Hum Mol Genet. 2001 Dec 15;10(26):2989-3000. doi: 10.1093/hmg/10.26.2989.

Heterogeneous phenotypes in families with duplications of the paternal allele within the imprinting center 1 (H19/IGF2:TSS-DMR) in 11p15.5.11p15.5 印迹中心 1（H19/IGF2：TSS-DMR）内父源等位基因重复的家族中表现出异质性表型。

Clin Genet. 2020 Oct;98(4):418-419. doi: 10.1111/cge.13820. Epub 2020 Aug 9.

Epigenotype, genotype, and phenotype analysis of patients in Taiwan with Beckwith-Wiedemann syndrome.台湾贝克威思-维德曼综合征患者的表观基因型、基因型和表型分析。

Mol Genet Metab. 2016 Sep;119(1-2):8-13. doi: 10.1016/j.ymgme.2016.07.003. Epub 2016 Jul 12.

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Germline (epi)genetics reveals high predisposition in females: a 5-year, nationwide, prospective Wilms tumour cohort.胚系（表观）遗传学揭示女性的高易感性：一项为期 5 年的全国性威尔姆斯肿瘤前瞻性队列研究。

J Med Genet. 2023 Sep;60(9):842-849. doi: 10.1136/jmg-2022-108982. Epub 2023 Apr 5.

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St. Jude Cloud: A Pediatric Cancer Genomic Data-Sharing Ecosystem.圣裘德云：儿科癌症基因组数据共享生态系统。

Cancer Discov. 2021 May;11(5):1082-1099. doi: 10.1158/2159-8290.CD-20-1230. Epub 2021 Jan 6.

Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes.对 198 名连续儿科癌症患者进行的全国种系全基因组测序揭示了高发的癌症易感综合征。

PLoS Genet. 2020 Dec 17;16(12):e1009231. doi: 10.1371/journal.pgen.1009231. eCollection 2020 Dec.

A structural variation reference for medical and population genetics.医学和人群遗传学的结构变异参考

Nature. 2020 May;581(7809):444-451. doi: 10.1038/s41586-020-2287-8. Epub 2020 May 27.

Paternal 132 bp deletion affecting in 11p15.5 is associated with growth retardation but does not affect imprinting.父源 11p15.5 区域 132bp 缺失导致生长迟缓，但不影响印迹。

J Med Genet. 2021 Mar;58(3):173-176. doi: 10.1136/jmedgenet-2020-106868. Epub 2020 May 23.

11p15.5 epimutations in children with Wilms tumor and hepatoblastoma detected in peripheral blood.在患有肾母细胞瘤和肝母细胞瘤的儿童的外周血中检测到 11p15.5 印记突变。

Cancer. 2020 Jul 1;126(13):3114-3121. doi: 10.1002/cncr.32907. Epub 2020 Apr 22.

Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.专家共识文件：贝克威思-威德曼综合征的临床和分子诊断、筛查及管理：国际专家共识声明。

Nat Rev Endocrinol. 2018 Apr;14(4):229-249. doi: 10.1038/nrendo.2017.166. Epub 2018 Jan 29.

Diagnosis and management of Silver-Russell syndrome: first international consensus statement.Silver-Russell 综合征的诊断和管理：首个国际共识声明。

Nat Rev Endocrinol. 2017 Feb;13(2):105-124. doi: 10.1038/nrendo.2016.138. Epub 2016 Sep 2.

CDKN1C mutation affecting the PCNA-binding domain as a cause of familial Russell Silver syndrome.CDKN1C 基因突变影响 PCNA 结合域，导致家族性 Russell Silver 综合征。

J Med Genet. 2013 Dec;50(12):823-30. doi: 10.1136/jmedgenet-2013-101691. Epub 2013 Sep 24.

Beckwith-Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2/H19-imprinting control region, ICR1.由 IGF2/H19 印迹控制区 ICR1 中 OCT 结合基序的母系遗传突变引起的 Beckwith-Wiedemann 综合征。

Eur J Hum Genet. 2012 Feb;20(2):240-3. doi: 10.1038/ejhg.2011.166. Epub 2011 Aug 24.

Beckwith-Wiedemann syndrome-associated hepatoblastoma: wnt signal activation occurs later in tumorigenesis in patients with 11p15.5 uniparental disomy.贝克威思-维德曼综合征相关的肝母细胞瘤：11p15.5单亲二倍体患者的肿瘤发生过程中，Wnt信号激活出现得较晚。

Pediatr Dev Pathol. 2003 Jul-Aug;6(4):299-306. doi: 10.1007/s10024-003-1009-1.

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Maternal versus paternal inheritance of a 132 bp 11p15.5 microdeletion affecting and associated phenotypes.

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