title: Microdeletions of the 7q32.2 imprinted region are associated with Silver-Russell syndrome features.
abstract: The association of maternal uniparental disomy of human chromosome 7 (upd(7) mat) and the growth retardation disorder Silver-Russell syndrome (SRS) is well established, but the causative gene or region is currently unknown. However, several observations indicate that molecular alterations of the genomically imprinted MEST region in 7q32.2 are associated with growth retardation and a phenotype reminiscent to SRS. We now report on a second patient with a similar phenotype and a de novo 7q32.2 microdeletion including MEST affecting the paternal allele. This confirms the central role of imprinted genes in 7q32.2 in the etiology of a growth retardation phenotype associated with SRS features.
authors.affiliation: Pediatric Service, San Pedro de Alcántara Hospital, Cáceres, Spain.|Center for Biomedical Research on Rare Diseases (CIBERER), Madrid, Spain.
authors.forename: Ignacio Arroyo
authors.initials: IA
authors.lastname: Carrera
authors.affiliation: Pediatric Service, San Pedro de Alcántara Hospital, Cáceres, Spain.
authors.forename: María Solo
authors.initials: MS
authors.lastname: de Zaldívar
authors.affiliation: Pediatric Service, San Pedro de Alcántara Hospital, Cáceres, Spain.
authors.forename: Rebeca
authors.initials: R
authors.lastname: Martín
authors.affiliation: Institute of Human Genetics, University Hospital, RWTH Aachen University, Aachen, Germany.
authors.forename: Matthias
authors.initials: M
authors.lastname: Begemann
authors.affiliation: Institute of Human Genetics, University Hospital, RWTH Aachen University, Aachen, Germany.
authors.forename: Lukas
authors.initials: L
authors.lastname: Soellner
authors.affiliation: Institute of Human Genetics, University Hospital, RWTH Aachen University, Aachen, Germany.
authors.forename: Thomas
authors.initials: T
authors.lastname: Eggermann
mesh_terms: D000293:Adolescent; D000483:Alleles; D002872:Chromosome Deletion; D002897:Chromosomes, Human, Pair 7; D019295:Computational Biology / Q000379:methods; D019175:DNA Methylation; D019066:Facies; D056726:Genetic Association Studies; D018392:Genomic Imprinting; D006801:Humans; D008297:Male; D010641:Phenotype; D056730:Silver-Russell Syndrome / Q000175:diagnosis* / Q000235:genetics*
keywords: MEST; Silver-Russell syndrome; genomic imprinting; microdeletion 7q32.2