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Structural and numerical changes of chromosome X in patients with esophageal atresia

Erwin Brosens1, Elisabeth M de Jong1, Tahsin Stefan Barakat2

  • 11] Department of Clinical Genetics, Erasmus Medical Centre-Sophia Children's Hospital, Rotterdam, The Netherlands [2] Department of Paediatric Surgery, Erasmus Medical Centre-Sophia Children's Hospital, Rotterdam, The Netherlands.

European Journal of Human Genetics : EJHG
|January 9, 2014
PubMed

Insights

Genetic factors in esophageal atresia (EA/TEF) were investigated. X chromosome anomalies, including triple X syndrome and SHOX gene duplications, were found in EA/TEF patients, suggesting a role in developmental pathways.

Area of Science:

  • Genetics
  • Developmental Biology
  • Pediatric Surgery

Background:

  • Esophageal atresia with or without tracheoesophageal fistula (EA/TEF) is a common congenital defect.
  • EA/TEF is frequently associated with VACTERL anomalies, but genetic causes remain unclear.
  • Rare gastrointestinal anomalies in triple X syndrome prompted investigation into X chromosome changes in EA/TEF.

Purpose of the Study:

  • To investigate the incidence of structural and numerical X chromosome anomalies in patients with EA/TEF.
  • To identify potential genetic factors contributing to EA/TEF development.
  • To explore the role of X-chromosome genes, like SHOX, in EA/TEF pathogenesis.

Main Methods:

  • Karyotype analysis of 269 EA/TEF patients.
  • SNP array for genome-wide copy number profiling.
  • Telomere-multiplex ligation-dependent probe amplification for PAR1 region aberrations.
  • X-chromosome inactivation (XCI) pattern analysis and inheritance studies.

Main Results:

  • Three female EA/TEF patients had an additional maternally inherited X chromosome (triple X syndrome) with normal XCI patterns.
  • Two male EA/TEF patients presented with inherited duplications of the SHOX gene locus.
  • Affected patients were small for gestational age and exhibited additional VACTERL-associated anomalies.

Conclusions:

  • X chromosome anomalies, including triple X syndrome and SHOX duplications, are present in EA/TEF patients.
  • Overexpression of X-linked genes escaping XCI, such as SHOX, may contribute to EA/TEF pathogenesis.
  • These findings highlight potential genetic links between X chromosome abnormalities and EA/TEF.

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