Case Report: A Novel Deletion in the 11p15 Region Causing a Familial Beckwith-Wiedemann Syndrome.
Case Report: A Novel Deletion in the 11p15 Region Causing a Familial Beckwith-Wiedemann Syndrome.
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11p15 区域的新缺失导致家族性 Beckwith-Wiedemann 综合征
DOI：
10.3389/fgene.2021.621096
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发表时间：
2021
影响因子：
3.7
通讯作者：
Sun L
中科院分区：
文献类型：
--
作者：
Chen J;Xu J;Yu Y;Sun L
Beckwith-Wiedemann综合征（BWS; OMIM 130650）是一种临床范围广泛的人类过度生长和癌症易感性疾病，不能仅根据基因组变异进行预测。大多数关于BWS病例的报告集中在儿童患者身上。关于成年BWS患者的研究很少。我们的研究报告了一个BWS家族，该家族的疾病似乎是由H19及其上游调控元件的缺失引起的。遗传分析显示患者存在杂合微缺失（~chr11:2009895-2070570 (GRCh37)）。母体缺失H19可导致IGF2-H19印迹控制元件功能丧失，从而导致BWS。本家族男性先证者受睾丸异常和隐睾影响。早期的睾丸切除术并没有挽救他的无精子症，这可能不是隐睾症的结果，而是由于与H19缺失相关的遗传缺陷。总之，我们的研究对成年期BWS的表现提供了一些见解。
Beckwith–Wiedemann syndrome (BWS; OMIM 130650) is a human overgrowth and cancer susceptibility disorder with a wide clinical spectrum, which cannot be predicted based on genomic variants alone. Most reports on BWS cases focus on childhood patients. Studies on adult BWS patients are scarce. Our study reports a BWS family in which the disorder appears to be caused by deletion of H19 and its upstream regulatory elements. Genetic analysis showed a heterozygous microdeletion (~chr11:2009895-2070570 (GRCh37)) in the patients. Maternal deletion in H19 can result in loss of function of the IGF2-H19 imprinting control element, which leads to BWS. The male proband in this family was affected by the testicular anomaly and cryptorchidism. Early orchidopexy did not rescue his azoospermia, which might be not the consequence of cryptorchidism, but due to genetic defects associated with H19 deletion. In summary, our study gives some insights on the presentation of BWS in adulthood.
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影响因子：
3.5
作者：
Beygo J;Citro V;Sparago A;De Crescenzo A;Cerrato F;Heitmann M;Rademacher K;Guala A;Enklaar T;Anichini C;Cirillo Silengo M;Graf N;Prawitt D;Cubellis MV;Horsthemke B;Buiting K;Riccio A
通讯作者：
Riccio A
影响因子：
1.9
作者：
De Crescenzo A;Coppola F;Falco P;Bernardo I;Ausanio G;Cerrato F;Falco L;Riccio A
通讯作者：
Riccio A
影响因子：
30.8
作者：
Sparago, A;Cerrato, F;Riccio, A
通讯作者：
Riccio, A
影响因子：
4
作者：
Diaz-Meyer, N;Day, CD;Higgins, MJ
通讯作者：
Higgins, MJ
影响因子：
64.8
作者：
Hark, AT;Schoenherr, CJ;Tilghman, SM
通讯作者：
Tilghman, SM