Characterisation of the growth regulating gene IMP3, a candidate for Silver-Russell syndrome

• Published in: Journal of medical genetics 2002-08, Vol.39 (8), p.575-581
• Main Authors: Monk, D, Bentley, L, Beechey, C, Hitchins, M, Peters, J, Preece, M A, Stanier, P, Moore, G E
• Format: Article
• Language: English
• Subjects: Abnormalities, Multiple - genetics; Animals; Biological and medical sciences; Cell Line; Chromosome Mapping; Chromosomes; Chromosomes, Human, Pair 7 - genetics; Cohort Studies; Diseases of the osteoarticular system; Female; Fetal Growth Retardation - genetics; Gene Expression Regulation, Developmental - genetics; Genes; Genetic disorders; Genetic Testing; Genomic Imprinting - genetics; Genotype & phenotype; Humans; IGF2; IMP3; imprinting; In Situ Hybridization, Fluorescence - methods; Insulin-Like Growth Factor II - genetics; Insulin-Like Growth Factor II - metabolism; Insulin-like growth factors; Letter to JMG; Malformations and congenital and or hereditary diseases involving bones. Joint deformations; Medical genetics; Medical sciences; Mice; Mutation; Neoplasm Proteins; Pregnancy; Proteins; RNA, Messenger - metabolism; RNA-Binding Proteins - genetics; Silver-Russell syndrome; Syndrome; Uniparental Disomy - genetics
• ISSN: 0022-2593; 1468-6244; 1468-6244
• DOI: 10.1136/jmg.39.8.575

No sequence mutations were identified in the IMP3 coding region in 25 SRS cases screened. Since the gene had been shown not to exhibit monoallelic expression, epigenetic mutations were not investigated. The identification of any novel monoallelically expressed genes within the mouse chromosome 11 and chromosome 6 imprinted regions will result in excellent human orthologous candidate genes for SRS. Since the SRS phenotype is so heterogeneous, no single gene may be responsible for all the features of SRS in any one person.