Temple syndrome as a result of isolated hypomethylation of the 14q32 imprinted DLK1/MEG3 region
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. (c) 2015 Wiley Periodicals, Inc.
American journal of medical genetics. Part A