a Institut für Humangenetik , Universitätsklinikum Essen, Universität Duisburg-Essen , Essen , Germany.
b Institut für Humangenetik , Universität zu Lübeck , Lübeck , Germany.
Epigenetics. 2018;13(8):822-828. doi: 10.1080/15592294.2018.1514233. Epub 2018 Sep 19.
Temple syndrome (TS14) is a rare imprinting disorder caused by genetic and epigenetic alterations on chromosome 14q32. A subset of these patients shows an imprinting defect (ID) where the paternal allele harbors a maternal epigenotype thus silencing the paternally expressed genes and leading to an increased expression of the maternally expressed genes. We investigated the grandparental origin of the incorrectly imprinted chromosome 14 in a cohort of 13 TS14 ID patients and their families. In seven families grandmaternal and, in six families, grandpaternal inheritance was observed. These results indicate that the ID occurred after imprint erasure in the paternal germ line. While the complete lack of methylation as observed in the majority of TS14 ID patients may be due to an imprint establishment error in the paternal germ line, cases with methylation mosaicism suggest that in general many IDs (TS14, AS, BWS, and SRS) are in fact of somatic origin in the early or late embryo.
泰尔综合征（TS14）是一种罕见的印记障碍，由染色体 14q32 上的遗传和表观遗传改变引起。这些患者中的一部分表现出印记缺陷（ID），即父本等位基因具有母本表型，从而沉默了父本表达的基因，并导致母本表达的基因表达增加。我们在一组 13 名 TS14 ID 患者及其家族中研究了错误印记的 14 号染色体的祖源。在七个家庭中观察到了母系遗传，而在六个家庭中观察到了父系遗传。这些结果表明，ID 发生在父本生殖系中的印记消除之后。虽然在大多数 TS14 ID 患者中观察到的完全去甲基化可能是由于父本生殖系中的印记建立错误，但具有甲基化嵌合体的病例表明，一般来说，许多 IDs（TS14、AS、BWS 和 SRS）实际上是在早期或晚期胚胎中具有体细胞起源。
