Facial and ocular manifestations of male patients affected by the < em > HUWE1 < /em > -related intellectual developmental disorder

We report two cases of individuals affected by HUWE1-Related Intellectual Developmental Disorder and present a review of literature of male patients affected by this disorder. Based on the literature review and findings in our two patients, it is our observation that patients with MRXST present with distinctive features, which include broad nasal tip, root, or prominent nose (39%), blepharophimosis (27%), epicanthic folds (25%), ear abnormalities (25%), thin upper lip (23%), and deep set eyes (23%). Furthermore, we note that oculofacial abnormalities are seen more frequently in patients with missense variants than patients with duplications in the HUWE1 gene. The findings noted in this paper may help clinicians suspect a diagnosis of MRXST when presented with these distinctive ocular and facial features.PMID:38021253 | PMC:PMC10658174
Source: International Journal of Molecular Epidemiology and Genetics - Category: Genetics & Stem Cells Authors: Source Type: research