A unique poikilodermatous condition associated with a de novo heterozygous ATR missense variant
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ID: 317591
2026
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Abstract
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>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.
| Reference Key |
openalex_W7164907364
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|---|---|
| Authors | Lauren Passby, Gabriela Petrof, Malobi Ogboli, Gavin Ryan, Grant S Stewart, Celia Moss, Marie‐Louise Lovgren |
| Journal | clinical and experimental dermatology |
| Year | 2026 |
| DOI |
10.1093/ced/llag238
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| URL | |
| Keywords | Keywords not found |
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