title: Evidence against GRB10 as the gene responsible for Silver-Russell syndrome.
abstract: Recent evidence shows that Silver-Russell syndrome (SRS), the major functional deficit of which is limited growth, both intrauterine and postnatal, is due to a double dose of a gene within 7p11.2-p13 that is normally expressed exclusively from the maternal copy. Of the several growth-related genes in this chromosomal region, only GRB10 has been demonstrated to be imprinted; however, imprinting was limited to brain and muscle and was incomplete. Using reverse-transcript PCR, we now confirm GRB10 imprinting in these two tissues is isoform-specific and, more importantly, demonstrate absence of imprinting in growth plate cartilage, the tissue most directly involved in linear growth. Thus, it is unlikely that GRB10 is the gene responsible for SRS.
authors.affiliation: Department of Pediatrics, Division of Endocrinology, McGill University Health Centre, 2300 Tupper Street, Montreal, Quebec, H3H 1P3, Canada.
authors.forename: J A
authors.initials: JA
authors.lastname: McCann
authors.forename: H
authors.initials: H
authors.lastname: Zheng
authors.forename: A
authors.initials: A
authors.lastname: Islam
authors.forename: C G
authors.initials: CG
authors.lastname: Goodyer
authors.forename: C
authors.initials: C
authors.lastname: Polychronakos
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D017398:Alternative Splicing; D015152:Blotting, Northern; D002356:Cartilage / Q000196:embryology / Q000378:metabolism; D002455:Cell Division; D002897:Chromosomes, Human, Pair 7; D017931:DNA Primers / Q000378:metabolism; D005091:Exons; D051383:GRB10 Adaptor Protein; D030342:Genetic Diseases, Inborn / Q000235:genetics* / Q000378:metabolism; D018392:Genomic Imprinting; D006130:Growth Disorders / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D007438:Introns; D008875:Middle Aged; D008957:Models, Genetic; D014176:Protein Biosynthesis; D020033:Protein Isoforms; D011506:Proteins / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D013577:Syndrome; D013696:Temperature; D014018:Tissue Distribution
chemical_list: D017931:DNA Primers; D020033:Protein Isoforms; D011506:Proteins; D051383:GRB10 Adaptor Protein