Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genes

Eur J Hum Genet. 2014 Apr;22(4):471-9. doi: 10.1038/ejhg.2013.189. Epub 2013 Oct 16.

Abstract

Obesity is a common but highly, clinically, and genetically heterogeneous disease. Deletion of the terminal region of the short arm of chromosome 2 is rare and has been reported in about 13 patients in the literature often associated with a Prader-Willi-like phenotype. We report on five unrelated patients with 2p25 deletion of paternal origin presenting with early-onset obesity, hyperphagia, intellectual deficiency, and behavioural difficulties. Among these patients, three had de novo pure 2pter deletions, one presented with a paternal derivative der(2)t(2;15)(p25.3;q26) with deletion in the 2pter region and the last patient presented with an interstitial 2p25 deletion. The size of the deletions was characterized by SNP array or array-CGH and was confirmed by fluorescence in situ hybridization (FISH) studies. Four patients shared a 2p25.3 deletion with a minimal critical region estimated at 1.97 Mb and encompassing seven genes, namely SH3HYL1, ACP1, TMEMI8, SNTG2, TPO, PXDN, and MYT1L genes. The fifth patient had a smaller interstitial deletion encompassing the TPO, PXDN, and MYT1L genes. Paternal origin of the deletion was determined by genotyping using microsatellite markers. Analysis of the genes encompassed in the deleted region led us to speculate that the ACP1, TMEM18, and/or MYT1L genes might be involved in early-onset obesity. In addition, intellectual deficiency and behavioural troubles can be explained by the heterozygous loss of the SNTG2 and MYT1L genes. Finally, we discuss the parent-of-origin of the deletion.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child
  • Child, Preschool
  • Chromosomes, Human, Pair 2 / genetics*
  • Comparative Genomic Hybridization
  • Female
  • Genome-Wide Association Study
  • Genotype
  • Humans
  • In Situ Hybridization, Fluorescence
  • Male
  • Membrane Proteins / genetics*
  • Nerve Tissue Proteins / genetics*
  • Obesity / complications
  • Obesity / diagnosis
  • Obesity / genetics*
  • Phenotype
  • Polymorphism, Single Nucleotide
  • Prader-Willi Syndrome / complications
  • Prader-Willi Syndrome / genetics
  • Protein Tyrosine Phosphatases / genetics*
  • Proto-Oncogene Proteins / genetics*
  • Sequence Analysis, DNA
  • Sequence Deletion*
  • Transcription Factors / genetics*

Substances

  • MYT1L protein, human
  • Membrane Proteins
  • Nerve Tissue Proteins
  • Proto-Oncogene Proteins
  • TMEM18 protein, human
  • Transcription Factors
  • ACP1 protein, human
  • Protein Tyrosine Phosphatases