Clinical and molecular delineation of a 16p13.2p13.13 microduplication

Eur J Med Genet. 2015 Mar;58(3):194-8. doi: 10.1016/j.ejmg.2014.12.016. Epub 2015 Jan 14.

Abstract

The 16p13.3p13.1 region has been reported as a "critical" hotspot region for recurrent microdeletions/duplications, which may contribute to epilepsy, learning difficulties and facial dysmorphisms. Cytogenetic and array-CGH analyses were performed because of the clinical characteristics of the patient. The girl showed de novo 16p13.3p13.13 duplication spanning a region of ∼5.3 Mb. She presented brain anomalies, intellectual disability, epilepsy, facial and vertebral dysmorphisms. To our knowledge, this is the first reported case of 16p13.3p13.13 duplication; only three patients with an overlapping deletion in 16p13.2p13.13 were previously described. The duplicated region contains 21 OMIM genes and, six of them (RBFOX1, TMEM114, ABAT, PMM2, GRIN2A and, LITAF) were found to be associated with known diseases. Although no duplication of these genes has been described in the literature, we discuss here if they had some role in determining phenotype of our patient.

Keywords: 16p13.3p13.13 duplication; Array-CGH.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / genetics
  • CREB-Binding Protein / genetics
  • Child
  • Child, Preschool
  • Chromosome Deletion
  • Chromosome Duplication*
  • Chromosomes, Human, Pair 15 / genetics
  • Chromosomes, Human, Pair 16 / genetics
  • Coloboma / genetics
  • Comparative Genomic Hybridization
  • Craniofacial Abnormalities / diagnosis
  • Craniofacial Abnormalities / genetics
  • Epilepsy / genetics
  • Female
  • Humans
  • Intellectual Disability / genetics
  • Membrane Proteins / genetics
  • Mosaicism
  • Muscular Atrophy / diagnosis
  • Muscular Atrophy / genetics
  • Nuclear Proteins / genetics
  • Phosphotransferases (Phosphomutases) / genetics
  • RNA Splicing Factors
  • RNA-Binding Proteins / genetics
  • Receptors, N-Methyl-D-Aspartate / genetics
  • Transcription Factors / genetics
  • Trisomy / genetics*

Substances

  • LITAF protein, human
  • Membrane Proteins
  • Nuclear Proteins
  • RBFOX1 protein, human
  • RNA Splicing Factors
  • RNA-Binding Proteins
  • Receptors, N-Methyl-D-Aspartate
  • TMEM114 protein, human
  • Transcription Factors
  • CREB-Binding Protein
  • CREBBP protein, human
  • Phosphotransferases (Phosphomutases)
  • phosphomannomutase 2, human
  • N-methyl D-aspartate receptor subtype 2A

Supplementary concepts

  • Chromosome 15q, trisomy
  • Chromosome 16, trisomy
  • Facial Dysmorphism with Multiple Malformations