Oculo-facio-cardio-dental (OFCD) syndrome: the first Italian case of BCOR and co-occurring OTC gene deletion

Gene. 2015 Apr 1;559(2):203-6. doi: 10.1016/j.gene.2015.01.044. Epub 2015 Jan 22.

Abstract

Oculo-facio-cardio-dental (OFCD) syndrome is a rare genetic disorder affecting ocular, facial, dental and cardiac systems. The syndrome is an X-linked dominant trait and it might be lethal in males. This syndrome is usually caused by mutations in the BCL6 interacting co-repressor gene (BCOR). We described a female child with mild phenotype of oculo-facio-cardio-dental syndrome. Array-comparative genomic hybridization (a-CGH) analysis revealed a de novo heterozygous deletion in the Xp11.4 region of approximately 2.3 Mb, involving BCOR and ornithine carbamoyl-transferase (OTC) genes. The deletion observed was subsequently confirmed by real time PCR. In this study we report a first case with co-occurrence of BCOR and OTC genes completely deleted in OFCD syndrome.

Keywords: BCOR; OTC; Oculo-facio-cardio-dental syndrome; a-CGH.

Publication types

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

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Abnormalities, Multiple / genetics
  • Cataract / congenital*
  • Cataract / diagnosis
  • Cataract / genetics
  • Child, Preschool
  • Comparative Genomic Hybridization
  • DNA Mutational Analysis
  • Female
  • Heart Septal Defects / diagnosis*
  • Heart Septal Defects / genetics
  • Humans
  • Microphthalmos / diagnosis*
  • Microphthalmos / genetics
  • Ornithine Carbamoyltransferase / genetics*
  • Proto-Oncogene Proteins / genetics*
  • Repressor Proteins / genetics*
  • Sequence Deletion

Substances

  • BCOR protein, human
  • Proto-Oncogene Proteins
  • Repressor Proteins
  • Ornithine Carbamoyltransferase

Supplementary concepts

  • Microphthalmia, syndromic 2