与14号染色体母源单亲二倍体临床表现相关的DLK1/GTL2基因座的孤立印记突变。
Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14.
作者信息
Temple I K, Shrubb V, Lever M, Bullman H, Mackay D J G
机构信息
Division of Human Genetics, University of Southampton, Southampton, Hampshire, UK.
出版信息
J Med Genet. 2007 Oct;44(10):637-40. doi: 10.1136/jmg.2007.050807. Epub 2007 Jun 29.
Abstract
The clinical phenotypes of maternal and paternal uniparental disomy of chromosome 14 (UPD14) are attributed to dysregulation of imprinted genes. A large candidate locus exists within 14q32, under the regulation of a paternally methylated intergenic differentially methylated region (IG-DMR). We present a patient with clinical features of maternal UPD14, including growth retardation, hypotonia, scoliosis, small hands and feet, and advanced puberty, who had loss of methylation of the IG-DMR with no evidence of maternal UPD14. This case provides support for the hypothesis that the maternal UPD14 phenotype is due to aberrant gene expression within the imprinted domain at 14q32.
摘要
14号染色体单亲二倍体（UPD14）的母源和父源单亲二倍体的临床表型归因于印迹基因的失调。在父源甲基化的基因间差异甲基化区域（IG-DMR）的调控下，14q32内存在一个大的候选基因座。我们报告了一名具有母源UPD14临床特征的患者，包括生长发育迟缓、肌张力减退、脊柱侧弯、手足短小和青春期提前，该患者IG-DMR甲基化缺失，且无母源UPD14的证据。该病例支持了母源UPD14表型是由于14q32印迹区域内基因表达异常这一假说。
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