title: New developments in Silver-Russell syndrome and implications for clinical practice.
abstract: Silver-Russell syndrome is a clinically and genetically heterogeneous disorder, characterized by prenatal and postnatal growth restriction, relative macrocephaly, body asymmetry and characteristic facial features. It is one of the imprinting disorders, which results as a consequence of aberrant imprinted gene expressions. Currently, maternal uniparental disomy of chromosome 7 accounts for approximately 10% of Silver-Russell syndrome cases, while ~50% of patients have hypomethylation at imprinting control region 1 at chromosome 11p15.5 locus, leaving ~40% of cases with unknown etiologies. This review aims to provide a comprehensive list of molecular defects in Silver-Russell syndrome reported to date and to highlight the importance of multiple-loci/tissue testing and trio (both parents and proband) screening. The epigenetic and phenotypic overlaps with other imprinting disorders will also be discussed.
authors.affiliation: University College London, Institute of Child Health, Genetics & Genomic Medicine programme, Genetics & Epigenetics in Health & Diseases Section, 30 Guilford Street, London, WC1N 1EH, UK.
authors.forename: Miho
authors.initials: M
authors.lastname: Ishida
mesh_terms: D002880:Chromosomes, Human, Pair 11 / Q000235:genetics; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics; D019175:DNA Methylation; D018392:Genomic Imprinting; D006801:Humans; D056730:Silver-Russell Syndrome / Q000235:genetics*; D024182:Uniparental Disomy / Q000235:genetics
keywords: Silver–Russell syndrome; discordant twins; epigenetics; epigenomic editing; fetal growth; genomic imprinting; multilocus imprinting disturbance