A unique poikilodermatous condition associated with a de novo heterozygous ATR 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>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.