Phenotypic expansion of TBX4 mutations to include acinar dysplasia of the lungs

Am J Med Genet A. 2016 Sep;170(9):2440-4. doi: 10.1002/ajmg.a.37822. Epub 2016 Jul 4.

Abstract

Mutations in the T-box transcription factor TBX4 gene have been reported in patients with Ischiocoxopodopatellar syndrome (MIM# 147891) and childhood-onset pulmonary arterial hypertension. Whole exome sequencing of DNA from a 1 day old deceased newborn, with severe diffuse developmental lung disorder exhibiting features of acinar dysplasia, and her unaffected parents identified a de novo TBX4 missense mutation p.E86Q (c.256G>C) in the DNA-binding T-box domain. We propose phenotypic expansion of the TBX4-related clinical disease spectrum to include acinar dysplasia of the lungs. The reported mutation is the first identified genetic variant causative for acinar dysplasia. © 2016 Wiley Periodicals, Inc.

Keywords: T-box transcription factor; congenital anomaly; lung mesenchyme; pulmonary hypoplasia.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Autopsy
  • Chromosomes, Human, Pair 16
  • DNA Copy Number Variations
  • DNA Mutational Analysis
  • Fatal Outcome
  • Female
  • Genetic Association Studies*
  • Genotype
  • Heterozygote
  • Humans
  • Infant, Newborn
  • Karyotype
  • Lung / abnormalities*
  • Lung / pathology
  • Mutation*
  • Pedigree
  • Phenotype*
  • Radiography, Thoracic
  • T-Box Domain Proteins / genetics*

Substances

  • T-Box Domain Proteins
  • TBX4 protein, human