title: Temple syndrome as a result of isolated hypomethylation of the 14q32 imprinted DLK1/MEG3 region.
abstract: We present a Caucasian female, who was diagnosed at 13 years of age with Temple syndrome (formerly referred to as "maternal UPD 14 phenotype") due to an epigenetic loss of methylation at IG-DMR/MEG3-DMR at the chromosome 14q32 imprinted locus. Clinical features were typical and included intra-uterine growth retardation (IUGR), low birth weight, hypotonia, and poor feeding in the neonatal period; and failure to thrive and developmental delay--particularly in relation to speech--in early childhood. Premature puberty, with short stature and truncal obesity, but normal intelligence, were the key features in teenage years. To date only eight patients with Temple syndrome due to an epigenetic error have been described and the etiology of the methylation defect is currently undetermined. In view of a tendency towards central obesity, patients are at potential risk of early-onset type 2 diabetes mellitus, as well as cardiovascular disease and they, therefore, require appropriate monitoring.
authors.affiliation: Manchester Centre for Genomic Medicine, St. Mary's Hospital, University of Manchester, Manchester, United Kingdom.
authors.forename: Tracy A
authors.initials: TA
authors.lastname: Briggs
authors.affiliation: Academic Unit of Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, United Kingdom.|Wessex Clinical Genetics Service, Princess Anne Hospital, University Hospital Southampton NHS Foundation Trust, Southampton, United Kingdom.
authors.forename: Kemi
authors.initials: K
authors.lastname: Lokulo-Sodipe
authors.affiliation: Manchester Centre for Genomic Medicine, St. Mary's Hospital, University of Manchester, Manchester, United Kingdom.
authors.forename: Kate E
authors.initials: KE
authors.lastname: Chandler
authors.affiliation: Academic Unit of Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, United Kingdom.
authors.forename: Deborah J G
authors.initials: DJ
authors.lastname: Mackay
authors.affiliation: Academic Unit of Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, United Kingdom.|Wessex Clinical Genetics Service, Princess Anne Hospital, University Hospital Southampton NHS Foundation Trust, Southampton, United Kingdom.
authors.forename: I Karen
authors.initials: IK
authors.lastname: Temple
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D000293:Adolescent; D002135:Calcium-Binding Proteins; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics*; D019175:DNA Methylation / Q000235:genetics*; D002658:Developmental Disabilities / Q000235:genetics; D005260:Female; D018392:Genomic Imprinting / Q000235:genetics*; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins / Q000235:genetics*; D008565:Membrane Proteins / Q000235:genetics*; D010641:Phenotype; D062085:RNA, Long Noncoding / Q000235:genetics*; D024182:Uniparental Disomy / Q000235:genetics* / Q000473:pathology
chemical_list: D002135:Calcium-Binding Proteins; C512941:DLK1 protein, human; D036341:Intercellular Signaling Peptides and Proteins; C498907:MEG3 non-coding RNA, human; D008565:Membrane Proteins; D062085:RNA, Long Noncoding
keywords: chromosome 14q32; epigenetics; imprinting; temple syndrome