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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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本文引用的文献

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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.
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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.
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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.
4
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.
5
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.
6
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.
7
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.
8
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.
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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.
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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.