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Undiagnosed Hackathon Ends Diagnostic Odyssey in a Patient With DNA2 -Related Rothmund-Thomson Syndrome.

American journal of medical genetics. Part A - 1 Dec 2025

Ay Beril, Akgun-Dogan Ozlem, Taylan Fulya, Marcelis Carlo, Abali Saygin, Lim Jiin Ying, Malicdan May Christine, Cederroth Helene, Cederroth Mikk, Botto Lorenzo D, Alanay Yasemin

Abstract excerpt

Rothmund-Thomson syndrome (RTS) is an ultra-rare, genetically heterogeneous autosomal recessive genodermatosis characterized by poikiloderma, sparse hair and eyebrows, photosensitivity, and short stature. The recently described RTS type 4 (RTS-4), caused by biallelic variants in the DNA2 gene, is associated with additional distinctive features such as microphthalmia, corneal opacity, congenital cataracts (rather...

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PMID: 40693833
DOI: 10.1002/ajmg.a.64179

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DNA2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 11 Sept 2026.

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