Article Text

other Versions

PDF
Temple syndrome: improving the recognition of an underdiagnosed chromosome 14 imprinting disorder: an analysis of 51 published cases
  1. Yiannis Ioannides1,
  2. Kemi Lokulo-Sodipe1,2,
  3. Deborah J G Mackay1,3,
  4. Justin H Davies1,4,
  5. I Karen Temple1,2
  1. 1Academic Unit of Human Development and Health, Human Genetics and Genomics Medicine group, Faculty of Medicine, University of Southampton, Southampton, UK
  2. 2Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Princess Anne Hospital, Southampton, UK
  3. 3Wessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust, Salisbury, UK
  4. 4Department of Paediatric Endocrinology, University Hospital Southampton NHS Foundation Trust, Southampton, UK
  1. Correspondence to I Karen Temple, Wessex Clinical Genetics Service, Princess Anne Hospital, Coxford Road, Southampton, Hampshire SO16 5YA, UK; ikt{at}soton.ac.uk

Abstract

Chromosome 14 harbours an imprinted locus at 14q32. Maternal uniparental disomy of chromosome 14, paternal deletions and loss of methylation at the intergenic differentially methylated region (IG-DMR) result in a human phenotype of low birth weight, hypotonia, early puberty and markedly short adult stature. The analysis of the world literature of 51 cases identifies the key features that will enhance diagnosis and potentially improve treatment. We found a median birth weight SD score (SDS) of −1.88 and median adult final height of −2.04 SDS. Hypotonia and motor delay were reported in 93% and 83% of cases, respectively. Early puberty was reported in 86% of cases with the mean age of menarche at 10 years and 2 months of age. Small hands and feet were reported frequently (87% and 96%, respectively). Premature birth was common (30%) and feeding difficulties frequently reported (n = 22). There was evidence of mildly reduced intellectual ability (measured IQ 75–95). Obesity was reported in 49% of cases, and three patients developed type 2 diabetes mellitus. Two patients were reported to have recurrent hypoglycaemia, and one of these patients was subsequently demonstrated to be growth hormone deficient and started replacement therapy. We propose the use of the name ‘Temple syndrome’ for this condition and suggest that improved diagnosis and long-term monitoring, especially of growth and cardiovascular risk factors, is required.

Keywords
  • Imprinting
  • Temple syndrome
  • UPD14mat
  • chromosome 14q32

Statistics from Altmetric.com

Request permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.