ESPE Abstracts

Context: X chromosome inactivation (XCI) is a process in which one of the two X chromosomes in a female is randomly inactivated in order to correct gene dosage between males and females. However, about 15% of genes escape from XCI (termed escapees), and 10% of genes are variably inactivated (variable genes). The mechanism of inactivation and escape remains to be revealed. The promoter regions of escapees are hypomethylated compared to those of the inac...

Introduction: Temple syndrome (TS14) caused by maternal uniparental disomy chromosome 14 (UPD(14)mat), paternal deletions and the imprinting defect affecting the 14q32.2 imprinted region is associated with non-specific symptoms such as growth failure, precocious puberty, obesity, and diabetes mellitus (DM). Some TS14 cases are misdiagnosed as having Prader–Willi syndrome (PWS). In TS14, patient’s intelligence quotient (IQ) is usually normal, and autism spectrum disor...

Context: Pseudohypoparathyroidism type 1B (PHP1B) caused by methylation defects of differentially methylated regions (DMRs) on the GNAS locus can be categorized into groups according to etiologies and methylation defect patterns of the DMRs. However, there are no reports evaluating the clinical differences in detail, such as diagnostic features at onset and Albright’s hereditary osteodystrophy (AHO) features, among the groups.<stro...

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...

Background: Silver-Russell syndrome (SRS) is a rare congenital developmental disorder characterised by pre- and postnatal growth failure, relative macrocephaly, triangular face, hemihypotrophy, and fifth finger clinodactyly. Hypomethylation of the H19-DMR and maternal uniparental disomy chromosome 7 (UPD(7)mat) were identified in about 30 and 10% of SRS patients respectively. Genetic causes of the remaining 60% of the patients are unknown. Growth failure, small hands, and hypo...

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...