A unique poikilodermatous condition associated with a <i>de novo</i> heterozygous <i>ATR</i> missense variant
We describe a child with progressive poikiloderma telangiectases, and punctate palmoplantar keratoses. Whole genome sequencing identified a de novo heterozygous missense variant in the ATR (Ataxia Telangiectasia and Rad3-related) gene (c.3982G&gt;A, p.Val1328Ile). Phenotypic appearances are in keeping with the sole published pedigree with a heterozygous ATR variant (p.Gln2144Arg), with 24 affected members across 5 generations having telangiectases, eyebrow and hair loss, and thin dental enamel. This pedigree has a strong associated with early-onset oropharyngeal cancer and pulmonary fibrosis, for which our patient remains under close surveillance.
Authors
- Gavin Ryan
- Lauren Passby (ORCID: https://orcid.org/0000-0003-3069-0885)
- Marie‐Louise Lovgren (ORCID: https://orcid.org/0000-0002-1220-716X)
- Gabriela Petrof (ORCID: https://orcid.org/0000-0001-8113-0373)
- Celia Moss (ORCID: https://orcid.org/0000-0003-1773-4011)
- Malobi Ogboli
- Grant S Stewart
Institutions
- Great Ormond Street Hospital for Children NHS Foundation Trust (GB)
- Cancer Research UK Clinical Trials Unit (GB)
- Birmingham Women’s and Children’s NHS Foundation Trust (GB)
- University of Birmingham (GB)
Publication Details
- Journal
- Clinical and Experimental Dermatology
- Published
- 2026-06-16
- DOI
- https://doi.org/10.1093/ced/llag238
- Primary Topic
- DNA Repair Mechanisms
- Type
- article
- Field-Weighted Citation Impact
- 0.00