Researchers used long-read sequencing and identified previously unknown genetic variants that affect the gene associated with the kidney disease Bartter syndrome.

The findings are published in the journal Genome Medicine.


Janine Altmüller, head of the Genomics Platform of the Max Delbrück Center and the Berlin Institute of Health at Charité (BIH), and her team of scientists have identified various genetic variants that were previously unknown that affect CLCNKB and the neighboring gene CLCNKA.

The researchers suspect that this pattern in the genome favors the emergence of disease-causing gene variants. “The structural change is fascinating because, in evolutionary terms, it is a mutation hot spot,” said Altmüller. “The pattern increases the likelihood that other structural variants could arise during human evolution.” In fact, the team found eight different deletions in CLCNKB in the patient cohort. What this means, said Altmüller, is that this rare kidney disease does not always result from the same structural variants, but instead involves independent events that share the same genetic background.

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