ESPE Abstracts

Abnormal expression of imprinted genes leads to imprinting disorders (IDs). Silver-Russell syndrome (SRS) and Prader-Willi syndrome (PWS) are representative IDs showing small for gestational age and short stature (SGA-SS).Temple syndrome (TS14) caused by abnormal gene expression at the 14q32.2 imprinted region, maternal uniparental disomy of chromosome 6 (UPD(6)mat), 16 (UPD(16)mat), and 20 (UPD(20)mat) are also associated with SGA-SS. Fuethermore, some copy number variations ...

Object: IGF2 is a paternally expressed gene involved in the development of Silver-Russell syndrome (SRS). Here, we report six Japanese patients with IGF2 mutations and compare clinical findings between patients with IGF2 mutations including literature cases and those with H19/IGF2:IG-DMR epimutations.Patients: We recruited six Japanese patients with IGF2 mutations. Th...

Background: Maternal uniparental disomy of chromosome 16 (UPD(16)mat) is defined as the presence of two homologous chromosomes 16 inherited from only the mother. To our knowledge, 49 live-born UPD(16)mat patients without chromosomal abnormalities other than that in chromosome 16 have been reported. UPD(16)mat patients presented with non-specific clinical features such as preterm birth, growth retardation, congenital heart diseases (CHDs) and hypospadias. Silver-Russell syndrom...

Context: Maternal uniparental disomy for chromosome 20 (UPD(20)mat) resulting in aberrant expression of imprinted transcripts at the GNAS locus is a poorly characterized condition. Only 10 non-mosaic cases have been studied clinically. These patients presented with pre- and post-natal growth failure and feeding difficulties. The phenotype of these cases overlapped with that of Silver-Russell syndrome (SRS) and small for gestational age-short stature (SGA-SS); however, the etio...