Pathogenic Variant in ACTB, p.Arg183Trp, Causes Juvenile-Onset Dystonia, Hearing Loss, and Developmental Delay without Midline Malformation. (12th April 2017)

• Record Type: Journal Article
• Authors: Conboy, Erin; Vairo, Filippo; Waggoner, Darrel; Ober, Carole; Das, Soma; Dhamija, Radhika; Klee, Eric W.; Pichurin, Pavel
• Other Names: Suri Mohnish Academic Editor.
• Is Part Of: Case reports in genetics. Volume 2017(2017)
• Publication Date: 2017-04-12
• Subjects: Genetics -- Periodicals; Genetics -- Case studies -- Periodicals; Genetics; Genetic Phenomena; Genetics; Periodicals; Case studies; Periodicals; Case Reports; Fulltext; Internet Resources; Periodicals; 576.5
• DOI: 10.1155/2017/9184265
• Languages: English
• ISSNs: 2090-6544

Abstract

Abstract : ACTB encodes the β -actin, and pathogenic variations in this gene have typically been associated with Baraitser-Winter cerebrofrontofacial syndrome, a congenital malformation syndrome characterized by short stature, craniofacial anomalies, and cerebral anomalies. Here, we describe the third case with the p.Arg183Trp variant in ACTB causing juvenile-onset dystonia. Our patient has severe, intractable dystonia, developmental delay, and sensorineural hearing loss, besides hyperintensities in the caudate nuclei and putamen on the brain MRI, which is a distinct but overlapping phenotype with the previously reported case of identical twins with the same alteration in ACTB .