Two Novel Variants in the ATRX Gene Associated with Variable Phenotypes

Abstract

The X‐linked alpha‐thalassemia mental retardation (ATR‐X) syndrome is a rare genetic condition caused by mutations in the X‐encoded gene ATRX . Here we describe two unrelated patients of Sri Lankan origin with novel missense variants in the ATRX gene: c.839C>T|p.Cys280Tyr and c.5369C>T|p.Ala1790Val. These two novel variants were associated with variable phenotypes which clinically resembled X‐linked mental retardation‐hypotonic facies syndrome and Smith‐Fineman‐Myers syndrome respectively. These cases expand the clinical spectrum of ATR‐X syndrome and open new opportunities for the molecular diagnosis of ATRX mutations in male patients with severe global developmental delay and intellectual disabilities.