Examinations of maternal uniparental disomy and epimutations for chromosomes 6, 14, 16 and 20 in Silver-Russell syndrome-like phenotypes
Examinations of maternal uniparental disomy and epimutations for chromosomes 6, 14, 16 and 20 in Silver-Russell syndrome-like phenotypes
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DOI：
10.1186/s12881-016-0280-8
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发表时间：
2016-03-11
影响因子：
--
通讯作者：
Eggermann, Thomas
中科院分区：
文献类型：
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作者：
Sachwitz, Jana;Strobl-Wildemann, Getrud;Eggermann, Thomas
背景：Silver-Russell综合征（SRS）是一种具有非常广泛的分子和临床谱的生长迟缓疾病。尽管SRS与染色体11p15.5和7的印迹干扰的关联被普遍接受，但对其他分子变化的参与存在争议。第6、16、20号染色体母本单亲二体的研究进展（upd（6，16，20）mat）以及SRS表型患者中14 q32印记改变提出了关于这些突变参与SRS病因的问题。对54例具有SRS特征的生长迟缓患者进行了6、14、16和20号染色体异常甲基化模式的筛查。一个载体的14 q32表位突变被确定，而表位突变和母亲UPD的染色体6，16和20 excluded.Conclusions：我们的数据和文献中的数据证实，14 q32干扰显着贡献在这个队列的突变谱。此外，可以观察到6、16和20号染色体的母本单亲二体性，但很少见。如果它们发生，则可视为临床特征的病因。
Background: Silver-Russell syndrome (SRS) is a growth retardation disorder with a very broad molecular and clinical spectrum. Whereas the association of SRS with imprinting disturbances of chromosomes 11p15.5 and 7 is generally accepted, there are controversial discussions on the involvement of other molecular changes. The recent reports on the occurrence of maternal uniparental disomies of chromosomes 6, 16 and 20 (upd(6, 16, 20)mat), as well as 14q32 imprint alterations in patients with SRS phenotypes raise the question on the involvement of these mutations in the etiology of SRS.Methods: A cohort of 54 growth retarded patients with SRS features was screened for aberrant methylation patterns of chromsomes 6, 14, 16 and 20.Results: One carrier of a 14q32 epimutation was identified whereas epimutations and maternal UPD for chromosomes 6, 16 and 20 were excluded.Conclusions: Our data and those from the literature confirm that 14q32 disturbances significantly contribute to the mutation spectrum in this cohort. Furthermore, maternal uniparental disomy of chromosomes 6, 16 and 20 can be observed, but are rare. In case they occur they can be regarded as causative for clinical features.