Xq12q13.1 microduplication encompassing the EFNB1 gene in a boy with congenital diaphragmatic hernia

Eur J Med Genet. 2011 Sep-Oct;54(5):e525-7. doi: 10.1016/j.ejmg.2011.06.011. Epub 2011 Jul 14.

Abstract

Congenital diaphragmatic hernia (CDH) has an incidence of around 1/3000 births. Chromosomal anomalies constitute an important etiology for non-isolated CDH, and may participate to the identification of candidate genes for diaphragm development. We report on a microduplication identified by array-CGH (comparative genomic hybridization) including five contiguous genes (OPHN1, YIPF6, STARD8, EFNB1 and PJA1) and arising de novo in a male presenting a congenital diaphragmatic hernia (CDH). Our case is the second report of EFNB1 duplication associated with CDH in a male patient, supporting its implication sensitive to gene dosage in diaphragm development.

Publication types

  • Case Reports

MeSH terms

  • Chromosome Banding
  • Chromosomes, Human, X / genetics
  • Comparative Genomic Hybridization
  • Ephrin-B1 / genetics*
  • Gene Dosage
  • Hernia, Diaphragmatic / genetics
  • Hernias, Diaphragmatic, Congenital*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant
  • Male
  • Phenotype
  • Sex Chromosome Aberrations
  • Sex Chromosome Disorders / genetics*
  • Trisomy / genetics*

Substances

  • EFNB1 protein, human
  • Ephrin-B1

Supplementary concepts

  • Chromosome Xq duplication syndrome