Definition of 5q11.2 microdeletion syndrome reveals overlap with CHARGE syndrome and 22q11 deletion syndrome phenotypes

Charlotte Snijders Blok, Nicole Corsten-Janssen, David R. Fitzpatrick, Corrado Romano, Marco Fichera, Girolamo Aurelio Vitello, Marjolein H. Willemsen, Jeroen Schoots, Rolph Pfundt, Conny M A van Ravenswaaij-Arts, Lies Hoefsloot, Tjitske Kleefstra

Research output: Contribution to journalArticlepeer-review


Microdeletions of the 5q11.2 region are rare; in literature only two patients with a deletion in this region have been reported so far. In this study, we describe four additional patients and further define this new 5q11.2 microdeletion syndrome. A comparison of the features observed in all six patients with overlapping 5q11.2 deletions showed a phenotypic spectrum that overlaps with CHARGE syndrome and 22q11.2 deletion syndrome including choanal atresia, developmental delay, heart defects, external ear abnormalities, and short stature. No colobomas or abnormalities of semicircular canals and olfactory nerves were reported. Two male patients had genital abnormalities. We estimated a 2.0Mb (53.0-55.0Mb) Shortest Region of Overlap (SRO) for the main clinical characteristics of the syndrome. This region contains nine genes and two non-coding microRNAs. In this region DHX29 serves as the candidate gene as it encodes an ATP-dependent RNA-helicase that is involved in the initiation of RNA translation. Screening a small cohort of 14 patients who presented the main features, however, did not reveal any pathogenic abnormalities of DHX29.

Original languageEnglish
Pages (from-to)2843-2848
Number of pages6
JournalAmerican Journal of Medical Genetics, Part A
Issue number11
Publication statusPublished - Nov 1 2014


  • 22q11.2 deletion syndrome
  • 5q11.2 microdeletion syndrome
  • CHARGE syndrome
  • Choanal atresia
  • DHX29
  • Intellectual disability

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics


Dive into the research topics of 'Definition of 5q11.2 microdeletion syndrome reveals overlap with CHARGE syndrome and 22q11 deletion syndrome phenotypes'. Together they form a unique fingerprint.

Cite this