Novel Ataxia Telangiectasia and Rad3-Related Protein (ATR) Phenotype: Marfanoid Appearance, Generalized Hypermobility, Gait Imbalance, and Poor Wound Healing: A Case Report

Connective tissue disorders present to the emergency department with a broad spectrum of symptoms and signs, often leading to delayed diagnosis and missed opportunities to prevent fatal complications later in life. We report a case of a 54-year-old woman with an extensive history of multiple repeated medical evaluations for nonspecific complaints, including hypermobility, poor wound healing, and impaired balance, without a definitive diagnosis for six years. Eventually, the patient underwent whole exome sequencing (WES). WES identified a heterozygous variant in the ataxia telangiectasia and Rad3-related protein (ATR) gene, NM_001184.4(ATR):c.1464G>T (p.Glu488Asp), previously classified as a variant of uncertain significance based on only one prior report. The present case may represent a novel manifestation of ATR-related disorders, suggesting considerable overlap with hereditary connective tissue disorders. Rapid bedside assessment for connective tissue abnormalities in patients presenting with nonspecific symptom complexes could facilitate earlier identification of appropriate candidates for genetic testing.