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

## TL;DR

A 54-year-old woman with unexplained symptoms like poor wound healing and balance issues was found to have a novel ATR gene variant, suggesting a new ATR-related disorder overlapping with connective tissue diseases.

## Contribution

This case report presents a novel ATR-related disorder with connective tissue features not previously described.

## Key findings

- A heterozygous variant in the ATR gene (p.Glu488Asp) was identified through whole exome sequencing.
- The patient's symptoms suggest a novel ATR-related disorder overlapping with hereditary connective tissue disorders.
- Rapid bedside assessment for connective tissue abnormalities could improve early diagnosis and genetic testing.

## Abstract

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.