A father has sought the retraction of the paper describing his son's rare genetic condition over fears of being stigmatized, Retraction Watch reports. Andrew Han (a former GenomeWeb staffer) adds at Retraction Watch that the dad has accused the researcher of exploiting his son and naming the condition after herself.
Marc Pieterse's son has a rare mutation in the RPS23 gene, work on which was published in the American Journal of Human Genetics this past March. This mutation and its associated phenotypes were then entered into the Online Mendelian Inheritance in Man database as 'MacInnes Syndrome,' after the last author on the AJHG paper. Han writes that Pieterse believes that the University of Amsterdam's Alyson MacInnes submitted the condition to be included in OMIM to further her career, though both MacInnes and OMIM say she was not involved in its inclusion in the database. OMIM adds that it followed its own guidelines in naming the condition.
Pieterse also tells Retraction Watch that calling his son's condition a "syndrome" is stigmatizing as "[a] syndrome is a disease." He prefers it to be called a ribosomopathy.
Han says that Pieterse is seeking to have the OMIM entry removed. In an attempt to get AJHG to retract the paper to trigger the entry's removal, Pieterse withdrew his consent from the study, but the journal says his withdrawal doesn't affect the published scientific article.