The end of the chromosomes consists of DNA referred to as telomeres. The telomeres protect chromosomal DNA against shortening when cells divide. Patients with telomere biology disorders carry pathogenic germline variants in a gene involved in telomere function. New technologic advances have enabled us to identify more patients with telomere biology disorders, which in turn have increased our understanding of the phenotypic spectrum. The latter have proved wider than previously thought, and now we know that e.g. patients with isolated lung fibrosis can have an underlying telomere biology disorder.
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