The leading genetic disease database has chosen a new name for a genetic condition, following complaints from a man whose son has the condition.
On Aug. 11, 2017, two days after our coverage of the situation, the Online Mendelian Inheritance in Man (OMIM) database changed the primary name of the phenotype associated with mutations in the RPS23 gene. The new name describes a set of features: “Brachycephaly, Trichomegaly, and Developmental Delay,” or BTDD.
Brachycephaly describes a condition where the back of the head is abnormally flat and trichomegaly refers to extra length, curling, pigmentation, or thickness of the eyelashes.
Marc Pieterse, of the Netherlands, has a son with the rare RPS23 mutation, one of two known patients in the world. The mutation affects ribosomes, cell components involved in protein production. On Aug. 9, we reported on Pieterse’s crusade against OMIM’s original name for the condition, which dubbed it a syndrome. He has feared that calling it a syndrome would “stigmatize” his son’s condition and tried to get the paper underpinning the OMIM entry retracted. The American Journal of Human Genetics has said it will not retract the paper.
Pieterse told us he’s only partially pleased the name has been changed — he’s still unhappy that the original title, “MacInnes Syndrome,” remains listed as an alternate one.
Initially, OMIM had named the phenotype associated with RPS23 mutations after Alyson MacInnes, a researcher at the University of Amsterdam’s Academic Medical Center. The name had been selected by OMIM, following a standard procedure of using the last name of the last author of the scientific paper that described the link between the mutation and the set of features.
Pieterse told Retraction Watch that he doesn’t think BTDD is a great name, but he likes it much better than the previous one:
I think in the long term, it’s not describing well what is going on. As an intermediate solution for this naming game, I can live with it. If they want to describe it in this way, I won’t be upset about it.
However, OMIM lists MacInnes Syndrome as an alternative title, which Pieterse says he will not endure:
Take out the alternative name. You don’t need an alternative name anymore now…
I don’t think it’s a big deal for OMIM to leave it out.
OMIM Director Ada Hamosh, a professor at Johns Hopkins University, is on vacation, her assistant told us. When we spoke to Hamosh for our original story, she told us that the names of phenotypes can change, but the database entry is likely to continue displaying past names:
[OMIM] is a complete record of everything that happened.
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