Sachwitz Jana, Strobl-Wildemann Getrud, Fekete György, Ambrozaitytė Laima, Kučinskas Vaidutis, Soellner Lukas, Begemann Matthias, Eggermann Thomas
Institute of Human Genetics, RWTH Aachen, Pauwelsstr. 30, Aachen, Germany.
Praxis für Humangenetik, Ulm, Germany.
BMC Med Genet. 2016 Mar 11;17:20. doi: 10.1186/s12881-016-0280-8.
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.
A cohort of 54 growth retarded patients with SRS features was screened for aberrant methylation patterns of chromsomes 6, 14, 16 and 20.
One carrier of a 14q32 epimutation was identified whereas epimutations and maternal UPD for chromosomes 6, 16 and 20 were excluded.
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.
Silver-Russell综合征（SRS）是一种生长发育迟缓疾病，具有非常广泛的分子和临床谱。虽然SRS与染色体11p15.5和7的印记紊乱之间的关联已被普遍接受，但关于其他分子变化的参与仍存在争议性讨论。最近关于SRS表型患者中出现染色体6、16和20的母源性单亲二体（upd(6, 16, 20)mat）以及14q32印记改变的报道，引发了这些突变是否参与SRS病因的问题。
对一组54例具有SRS特征的生长发育迟缓患者进行染色体6、14、16和20异常甲基化模式的筛查。
鉴定出1例14q32表观突变携带者，而排除了染色体6、16和20的表观突变及母源性单亲二体。
我们的数据以及文献中的数据证实，14q32紊乱在该队列的突变谱中起重要作用。此外，可观察到染色体6、16和20的母源性单亲二体，但很罕见。如果发生，它们可被视为临床特征的病因。
