Letter to the Editor: Dubowitz Syndrome: A Unique Clinical Disorder That Is Often Confused With Bloom Syndrome

Clinical characterization of aPUF60variant in a patient with Dubowitz‐like syndrome

“…In addition, variants in NSUN2 identified in a consanguineous family from United Arab Emirates (Martinez et al, 2012) and LIG4 gene, responsible for DNA repair defects (Stewart et al, 2014;Yue et al, 2013) have been associated with Dubowitz syndrome. Moreover, Bloom syndrome and Fanconi Anemia are well-known chromosome instability conditions that are frequently confused with Dubowitz syndrome because of the shared clinical features (Kapoor, 2015;Sawyer et al, 2015). Fetal alcohol syndrome and Smith-Lemli-Opitz syndrome are another examples of currently well-characterized genetic conditions that were associated with Dubowitz syndrome (Gorlin, Cohen, & Hennekam, 2001).…”