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Glenn Nichols, surrounded by his hospice team. The author is in yellow.

Genetic Linkage

Whatís In A (Disease) Name?

November 12, 2017

Tags: ribosome, OMIM, Down syndrome, Huntington's disease, Vincent Pieterse, exome sequencing, RPS23

Vincent Pieterse has some unusual traits, and a rare mutation. Are they related as a novel syndrome -- or not?
Marc Pieterse was angry.

His son Vincentís unusual features Ė long, thick eyelashes; low-set ears; extra teeth; autistic behaviors; brittle hair; flat back of the head; hearing loss; developmental delay Ė had led Marc, an engineer and self-taught geneticist, to seek exome sequencing. He knew that strange combinations of traits could mean a mutation.

Sequencing Vincentís exome Ė the protein-encoding part of the genome Ė could reveal if a new mutation had arisen in him, rather than having been inherited from his parents. And thatís what happened. Vincent has his own dominant mutation in a gene called RPS23. He isnít, however, defined by any disease. Heís a striking, active, and happy young teen who loves watching and listening to birds as he rides his mountain bike to school through a nature reserve. (more…)

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