Article Text

Download PDFPDF
Expanding the clinical phenotype of COG6 deficiency
  1. Hanneke Haijes1,
  2. Hubertus C M T Prinsen2,
  3. Christian Thiel3,
  4. Christian Koerner3,
  5. Nanda M Verhoeven-Duif4,
  6. Peter M van Hasselt1
  1. 1Wilhelmina Children's Hospital, Metabolic diseases, Utrecht, Netherlands
  2. 2UMCU, Medical Genetics, Utrecht, Netherlands
  3. 3Zentrum fuer Kinder- und Jugendmedizin, Kinderheilkunde I, Heidelberg, Germany
  4. 4Department of Medical Genetics, UMC Utrecht, Section Metabolic diagnostics, Utrecht, Netherlands
  1. Correspondence to Dr Peter M van Hasselt, Wilhelmina Children's Hospital, Metabolic Diseases, Utrecht, Netherlands; p.vanhasselt{at}

Statistics from

Request Permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

Dear Editor,

With great interest we read the publication by Shaheen et al1 in which they describe a novel syndrome of hypohydrosis and intellectual disability that is linked to the presence of a homozygous intronic mutation in the COG6 gene. This mutation is associated with a deficiency of the COG6 protein, as evidenced by RT-PCR results. However, unlike the majority of known cases of COG deficiency, including COG6-congenital disorders of glycosylation (CDG) reports,2 ,3 they did not find the characteristic transferrin iso-electric focusing …

View Full Text


  • Contributors: HH, HCMTP and PMvH: wrote the letter. CT, CK and NMV-D critically reviewed the letter and provided comments.

  • Competing interests None.

  • Provenance and peer review Not commissioned; internally peer reviewed.

Linked Articles