Pathogenic Variant in ACTB, p.Arg183Trp, Causes Juvenile-Onset Dystonia, Hearing Loss, and Developmental Delay without Midline Malformation
Joint Authors
Klee, Eric W.
Conboy, Erin
Vairo, Filippo
Waggoner, Darrel
Ober, Carole
Dhamija, Radhika
Pichurin, Pavel
Das, Soma
Source
Issue
Vol. 2017, Issue 2017 (31 Dec. 2017), pp.1-4, 4 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2017-04-12
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Conboy, Erin& Vairo, Filippo& Waggoner, Darrel& Ober, Carole& Das, Soma& Dhamija, Radhika…[et al.]. 2017. Pathogenic Variant in ACTB, p.Arg183Trp, Causes Juvenile-Onset Dystonia, Hearing Loss, and Developmental Delay without Midline Malformation. Case Reports in Genetics،Vol. 2017, no. 2017, pp.1-4.
https://search.emarefa.net/detail/BIM-1145388
Modern Language Association (MLA)
Conboy, Erin…[et al.]. Pathogenic Variant in ACTB, p.Arg183Trp, Causes Juvenile-Onset Dystonia, Hearing Loss, and Developmental Delay without Midline Malformation. Case Reports in Genetics No. 2017 (2017), pp.1-4.
https://search.emarefa.net/detail/BIM-1145388
American Medical Association (AMA)
Conboy, Erin& Vairo, Filippo& Waggoner, Darrel& Ober, Carole& Das, Soma& Dhamija, Radhika…[et al.]. Pathogenic Variant in ACTB, p.Arg183Trp, Causes Juvenile-Onset Dystonia, Hearing Loss, and Developmental Delay without Midline Malformation. Case Reports in Genetics. 2017. Vol. 2017, no. 2017, pp.1-4.
https://search.emarefa.net/detail/BIM-1145388
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1145388