Contiguous gene deletion of TBX5 and TBX3 leads to a varible phenotype with combined features of Holt-Oram and ulnar-mammary syndromes

Am J Med Genet A. 2013 Jul;161A(7):1797-802. doi: 10.1002/ajmg.a.36054. Epub 2013 May 24.

Abstract

We report on a combination of congenital malformations in a mother and her fetus harboring a heterozygous deletion encompassing the TBX5 and TBX3 genes, which are disease-causing in Holt-Oram and ulnar-mammary syndromes, respectively. This contiguous gene syndrome is reminiscent of Okihiro syndrome and emphasizes the importance of array-CGH as a diagnostic tool in atypical syndromic presentations with intrafamilial variability.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / etiology
  • Abnormalities, Multiple / genetics*
  • Adult
  • Breast Diseases / etiology
  • Breast Diseases / genetics*
  • Female
  • Gene Deletion*
  • Heart Defects, Congenital / etiology
  • Heart Defects, Congenital / genetics*
  • Heart Septal Defects, Atrial / etiology
  • Heart Septal Defects, Atrial / genetics*
  • Humans
  • Lower Extremity Deformities, Congenital / etiology
  • Lower Extremity Deformities, Congenital / genetics*
  • Phenotype
  • Pregnancy
  • T-Box Domain Proteins / genetics*
  • Ulna / abnormalities*
  • Upper Extremity Deformities, Congenital / etiology
  • Upper Extremity Deformities, Congenital / genetics*
  • Young Adult

Substances

  • T-Box Domain Proteins
  • T-box transcription factor 5
  • TBX3 protein, human

Supplementary concepts

  • Holt-Oram syndrome
  • Ulnar-mammary syndrome