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Genetic Linkage

What’s In A (Disease) Name?

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 Vincent’s unusual features – long, thick eyelashes; low-set ears; extra teeth; autistic behaviors; brittle hair; flat back of the head; hearing loss; developmental delay – 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 Vincent’s exome – the protein-encoding part of the genome – could reveal if a new mutation had arisen in him, rather than having been inherited from his parents. And that’s what happened. Vincent has his own dominant mutation in a gene called RPS23. He isn’t, however, defined by any disease. He’s 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. Read More 
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