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Gene coding error likely responsible for rare form of inherited ‘short telomere’ disease

September 11, 2019

By combing through the entire genetic sequences of a person with a lung scarring disease and 13 of the person’s relatives, Johns Hopkins Medicine researchers say they have found a coding error in a single gene that is likely responsible for a rare form of the disease and the abnormally short protective DNA caps on chromosomes long associated with it.

The error was found in the DNA sequence of the gene ZCCHC8, and it decreases by half the production of a protein needed to keep those caps — called telomeres — at a critical length, say the researchers. The finding, they add, means the flaw likely will become part of a small but growing list of diagnostic markers for so-called short telomere syndromes.

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